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Xianliang Zhou - One of the best experts on this subject based on the ideXlab platform.
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liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel Frameshift Mutation of scnn1b
Endocrine connections, 2018Co-Authors: Chaoxia Lu, Kunqi Yang, Peipei Lu, Huimin Zhang, Xue Zhang, Di Zhang, Lei Song, Xu Meng, Ying Zhang, Xianliang ZhouAbstract:Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a family with misdiagnosis of primary aldosteronism (PA), but identify as LS with a pathogenic Frameshift Mutation of the epithelial sodium channel (ENaC) β subunit. DNA samples were collected from a 32-year-old proband and 31 other relatives in the same family. A designed panel including 41 genes associated with monogenic hypertension was screened using next-generation sequencing. The best candidate disease-causing variants were verified by Sanger sequencing. Genetic analysis of the proband revealed a novel Frameshift Mutation c.1838delC (p.Pro613Glnfs*675) in exon 13 of SCNN1B. This heterozygous Mutation involved the deletion of a cytosine from a string of three consecutive cytosines located at codons 612 to 613 and resulted in deletion of the crucial PY motif and elongation of the β-ENaC protein. The identical Mutation was also found in 12 affected family members. Amiloride was effective in alleviating LS for patients. There were no SCNN1A or SCNN1G Mutations in this family. Our study emphasizes the importance of considering LS in the differential diagnosis of early-onset hypertension. The identification of a novel Frameshift Mutation of SCNN1B enriches the genetic spectrum of LS and has allowed treatment of this affected family to prevent severe complications.
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a novel Frameshift Mutation of epithelial sodium channel β subunit leads to liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, X J Jiang, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
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A novel Frameshift Mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, Jiang Xj, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
Kunqi Yang - One of the best experts on this subject based on the ideXlab platform.
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A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia
American Journal of Hypertension, 2019Co-Authors: Yu-mo Zhao, Kunqi Yang, Wenjun Ma, Tao Tian, Ying Liao, Di Zhang, Huimin ZhangAbstract:Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene Mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G Frameshift Mutation. Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G Mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients. Genetic analysis identified a novel SCNN1G Frameshift Mutation, p.Arg586Valfs*598, in the proband with LS. This heterozygous Frameshift Mutation generated a premature stop codon and deleted the vital PY motif of ENaC. The same Mutation was present in his elder brother with LS, and his mother without any LS symptoms. Biochemical examination showed normokalemia in the three Mutation carriers. The Mutation identified was not found in any other family members, 100 hypertensives, or 100 healthy controls. Our study identified a novel SCNN1G Frameshift Mutation in a Chinese family with LS, expanding the genetic spectrum of SCNN1G. Genetic testing helped us identify LS with a pathogenic Mutation when the genotypes and phenotype were not completely consistent because of the hypokalemia. This case emphasizes that once a proband is diagnosed with LS by genetic testing, family genetic sequencing is necessary for early diagnosis and intervention for other family members, to protect against severe cardiovascular complications. © The Author(s) 2019. Published by Oxford University Press on behalf of American Journal of Hypertension, Ltd.
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A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.
American journal of hypertension, 2019Co-Authors: Peng Fan, Kunqi Yang, Yu-mo Zhao, Tao Tian, Ying Liao, Di Zhang, Ying Lou, Fang Luo, Huimin ZhangAbstract:BACKGROUND Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene Mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G Frameshift Mutation. METHODS Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G Mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients. RESULTS Genetic analysis identified a novel SCNN1G Frameshift Mutation, p.Arg586Valfs*598, in the proband with LS. This heterozygous Frameshift Mutation generated a premature stop codon and deleted the vital PY motif of ENaC. The same Mutation was present in his elder brother with LS, and his mother without any LS symptoms. Biochemical examination showed normokalemia in the three Mutation carriers. The Mutation identified was not found in any other family members, 100 hypertensives, or 100 healthy controls. CONCLUSIONS Our study identified a novel SCNN1G Frameshift Mutation in a Chinese family with LS, expanding the genetic spectrum of SCNN1G. Genetic testing helped us identify LS with a pathogenic Mutation when the genotypes and phenotype were not completely consistent because of the hypokalemia. This case emphasizes that once a proband is diagnosed with LS by genetic testing, family genetic sequencing is necessary for early diagnosis and intervention for other family members, to protect against severe cardiovascular complications.
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liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel Frameshift Mutation of scnn1b
Endocrine connections, 2018Co-Authors: Chaoxia Lu, Kunqi Yang, Peipei Lu, Huimin Zhang, Xue Zhang, Di Zhang, Lei Song, Xu Meng, Ying Zhang, Xianliang ZhouAbstract:Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a family with misdiagnosis of primary aldosteronism (PA), but identify as LS with a pathogenic Frameshift Mutation of the epithelial sodium channel (ENaC) β subunit. DNA samples were collected from a 32-year-old proband and 31 other relatives in the same family. A designed panel including 41 genes associated with monogenic hypertension was screened using next-generation sequencing. The best candidate disease-causing variants were verified by Sanger sequencing. Genetic analysis of the proband revealed a novel Frameshift Mutation c.1838delC (p.Pro613Glnfs*675) in exon 13 of SCNN1B. This heterozygous Mutation involved the deletion of a cytosine from a string of three consecutive cytosines located at codons 612 to 613 and resulted in deletion of the crucial PY motif and elongation of the β-ENaC protein. The identical Mutation was also found in 12 affected family members. Amiloride was effective in alleviating LS for patients. There were no SCNN1A or SCNN1G Mutations in this family. Our study emphasizes the importance of considering LS in the differential diagnosis of early-onset hypertension. The identification of a novel Frameshift Mutation of SCNN1B enriches the genetic spectrum of LS and has allowed treatment of this affected family to prevent severe complications.
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a novel Frameshift Mutation of epithelial sodium channel β subunit leads to liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, X J Jiang, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
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A novel Frameshift Mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, Jiang Xj, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
Yan Xiao - One of the best experts on this subject based on the ideXlab platform.
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a novel Frameshift Mutation of epithelial sodium channel β subunit leads to liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, X J Jiang, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
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A novel Frameshift Mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, Jiang Xj, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
Xue Zhang - One of the best experts on this subject based on the ideXlab platform.
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liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel Frameshift Mutation of scnn1b
Endocrine connections, 2018Co-Authors: Chaoxia Lu, Kunqi Yang, Peipei Lu, Huimin Zhang, Xue Zhang, Di Zhang, Lei Song, Xu Meng, Ying Zhang, Xianliang ZhouAbstract:Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a family with misdiagnosis of primary aldosteronism (PA), but identify as LS with a pathogenic Frameshift Mutation of the epithelial sodium channel (ENaC) β subunit. DNA samples were collected from a 32-year-old proband and 31 other relatives in the same family. A designed panel including 41 genes associated with monogenic hypertension was screened using next-generation sequencing. The best candidate disease-causing variants were verified by Sanger sequencing. Genetic analysis of the proband revealed a novel Frameshift Mutation c.1838delC (p.Pro613Glnfs*675) in exon 13 of SCNN1B. This heterozygous Mutation involved the deletion of a cytosine from a string of three consecutive cytosines located at codons 612 to 613 and resulted in deletion of the crucial PY motif and elongation of the β-ENaC protein. The identical Mutation was also found in 12 affected family members. Amiloride was effective in alleviating LS for patients. There were no SCNN1A or SCNN1G Mutations in this family. Our study emphasizes the importance of considering LS in the differential diagnosis of early-onset hypertension. The identification of a novel Frameshift Mutation of SCNN1B enriches the genetic spectrum of LS and has allowed treatment of this affected family to prevent severe complications.
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a novel Frameshift Mutation of epithelial sodium channel β subunit leads to liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, X J Jiang, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
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A novel Frameshift Mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, Jiang Xj, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
Chaoxia Lu - One of the best experts on this subject based on the ideXlab platform.
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liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel Frameshift Mutation of scnn1b
Endocrine connections, 2018Co-Authors: Chaoxia Lu, Kunqi Yang, Peipei Lu, Huimin Zhang, Xue Zhang, Di Zhang, Lei Song, Xu Meng, Ying Zhang, Xianliang ZhouAbstract:Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a family with misdiagnosis of primary aldosteronism (PA), but identify as LS with a pathogenic Frameshift Mutation of the epithelial sodium channel (ENaC) β subunit. DNA samples were collected from a 32-year-old proband and 31 other relatives in the same family. A designed panel including 41 genes associated with monogenic hypertension was screened using next-generation sequencing. The best candidate disease-causing variants were verified by Sanger sequencing. Genetic analysis of the proband revealed a novel Frameshift Mutation c.1838delC (p.Pro613Glnfs*675) in exon 13 of SCNN1B. This heterozygous Mutation involved the deletion of a cytosine from a string of three consecutive cytosines located at codons 612 to 613 and resulted in deletion of the crucial PY motif and elongation of the β-ENaC protein. The identical Mutation was also found in 12 affected family members. Amiloride was effective in alleviating LS for patients. There were no SCNN1A or SCNN1G Mutations in this family. Our study emphasizes the importance of considering LS in the differential diagnosis of early-onset hypertension. The identification of a novel Frameshift Mutation of SCNN1B enriches the genetic spectrum of LS and has allowed treatment of this affected family to prevent severe complications.
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a novel Frameshift Mutation of epithelial sodium channel β subunit leads to liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, X J Jiang, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
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A novel Frameshift Mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case
Clinical Endocrinology, 2015Co-Authors: Kunqi Yang, Jiang Xj, Chaoxia Lu, Xue Zhang, Yan Xiao, Xianliang ZhouAbstract:SummaryObjective Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to Mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic Mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. Design and Patients We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. We also screened for the Mutation in his parents, 100 hypertensive patients and 100 controls. Results Genetic analysis of SCNN1B revealed a Frameshift Mutation induced by insertion of an additional cytosine into a string of six located between codons 617 and 618, which is predicted to introduce a new termination codon at position 621 and produce a protein truncated by 20 amino acids. This Frameshift Mutation was not detected in the patient's parents, the 100 hypertensive patients or the 100 controls, indicating that this is a de novo Mutation and not a common genetic polymorphism. There was no Mutation of SCNN1G in any of the individuals examined. Conclusion Based on direct DNA sequencing, we identified a novel Frameshift Mutation in the βENaC gene in an isolated case of Liddle syndrome. Confirmation of the diagnosis and effective tailored treatment in the patient were achieved, implying that genetic testing is a useful tool to diagnose Liddle syndrome.
