The Experts below are selected from a list of 204 Experts worldwide ranked by ideXlab platform
Jingming Shi - One of the best experts on this subject based on the ideXlab platform.
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a pitx2 splice site mutation in a family with axenfeld rieger syndrome leads to decreased expression of nuclear pitx2 protein
International Ophthalmology, 2021Co-Authors: Feng Zhang, Lusi Zhang, Mengdan Cao, Yuting Yang, Xuanchu Duan, Jingming Shi, Ke LiuAbstract:Purpose Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. Methods An ARS pedigree was recruited and patients were given comprehensive ophthalmic examinations and general physical examinations. DNA from the proband II:2 was used for exome sequencing. Sanger sequencing was utilized to identify and validate PITX2 variations. qPCR and western blotting were performed to detect PITX2 expression in immortalized peripheral blood lymphocytes. Results All affected family members showed typical ocular abnormalities, including iris atrophy, Corectopia, shallow anterior chamber, complete or partial angle closure, and advanced glaucoma. They also exhibited systemic anomalies, such as microdontia, hypodontia, and redundant periumbilical skin. A heterozygous splice-site variation c.390 + 1G > A in PITX2, which might lead to a truncated PITX2 protein (p.Val131IlefsX127), was found in the proband. Sanger sequencing validated that the variation completely co-segregated with the ARS phenotype within this family and was absent in 100 unrelated controls. Western blotting revealed that the nuclear PITX2 protein was significantly decreased in patients compared with controls. Nonetheless, there was no significant difference in the total PITX2 protein level, consistent with qPCR results showing no alteration in PITX2 mRNA levels in the patient group. Conclusions PITX2 c.390 + 1G > A (p.Val131IlefsX127) was a novel genetic etiology of the ARS pedigree. The mutation leads to decreased nuclear PITX2, indicating lower transcriptional activity.
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a novel frameshift mutation in the pitx2 gene in a family with axenfeld rieger syndrome using targeted exome sequencing
BMC Medical Genetics, 2019Co-Authors: Lusi Zhang, Xuanchu Duan, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Jingming ShiAbstract:Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been identified within ARS patients, accounting for 40 to 70% of cases. Our purpose is to describe clinical and genetic findings in a Chinese family with ARS. An ARS family with three affected members was recruited. The patients underwent a series of complete ophthalmologic examinations, general physical examination and dental radiography. DNA samples of proband II-1 were used for targeted exome sequencing of the FOXC1 and PITX2 genes. Sanger sequencing was used to validate the variation in PITX2. Quantitative real-time PCR was carried out to detect the expression of PITX2 in patients and normal controls. All affected members showed iris atrophy, Corectopia, shallow anterior chamber, complete or partial angle closure, and advanced glaucoma. In addition, they revealed systemic anomalies, including microdontia, hypodontia, and redundant periumbilical skin. A novel heterozygous frameshift variation, c.515delA, in PITX2 was found in the proband, which might lead to a truncated PITX2 protein (p.Gln172ArgfsX36). Sanger sequencing validated that the variation completely cosegregated with the ARS phenotype among this family, but was absent in 100 unrelated controls. Quantitative real-time PCR analysis revealed that the mRNA expression of PITX2 was significantly decreased in patients compared with that in unrelated normal controls. PITX2 c.515delA (p.Gln172ArgfsX36) was the genetic etiology of our pedigree. The mutation led to decreased PITX2 gene expression and a truncated mRNA transcript.
Jerry A. Shields - One of the best experts on this subject based on the ideXlab platform.
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iridocorneal endothelial syndrome masquerading as iris melanoma in 71 cases
Archives of Ophthalmology, 2011Co-Authors: Carol L. Shields, Margaret V Shields, Vanessa Viloria, Haley Pearlstein, Jerry A. ShieldsAbstract:Objective To describe the clinical features of iridocorneal endothelial (ICE) syndrome in a group of patients referred because of suspected iris melanoma. Methods In a noncomparative case series, we performed medical record review for clinical features of ICE syndrome in 71 patients. Results At presentation, the median patient age was 54 years. All patients were referred for evaluation of a pigmented iris mass, suspected to be a melanoma. The iris color was blue or green in 51 (72%) and brown in 20 (28%). The mass proved to be a combination of iris stromal atrophy in 41 cases (58%) with exposure or loss of the underlying iris pigment epithelium; ectropion iridis in 24 (34%), imparting a disfigured iris with dark-brown color; iris nodules in 5 (7%); traction elevation with iris distortion from peripheral anterior synechia in 57 (80%); and Corectopia in 53 (75%), a feature commonly found with iris melanoma. The mean extent of iris atrophy was 2 clock hours. Ectropion iridis was unidirectional in 10 and multidirectional in 14. Additional features of ICE included corneal endothelial guttata-like changes in 33 (46%), corneal edema in 7 (10%), iris pigment epithelial transillumination defects in 12 (17%), polycoria in 1 (1%), and secondary glaucoma with intraocular pressure higher than 22 mm Hg in 7 (10%). Conclusions Iridocorneal endothelial syndrome can simulate iris melanoma. Features more suggestive of ICE syndrome include corneal endothelial guttata-like changes and edema, peripheral anterior synechia, multidirectional ectropion iridis, and iris atrophy.
Lusi Zhang - One of the best experts on this subject based on the ideXlab platform.
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a pitx2 splice site mutation in a family with axenfeld rieger syndrome leads to decreased expression of nuclear pitx2 protein
International Ophthalmology, 2021Co-Authors: Feng Zhang, Lusi Zhang, Mengdan Cao, Yuting Yang, Xuanchu Duan, Jingming Shi, Ke LiuAbstract:Purpose Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. Methods An ARS pedigree was recruited and patients were given comprehensive ophthalmic examinations and general physical examinations. DNA from the proband II:2 was used for exome sequencing. Sanger sequencing was utilized to identify and validate PITX2 variations. qPCR and western blotting were performed to detect PITX2 expression in immortalized peripheral blood lymphocytes. Results All affected family members showed typical ocular abnormalities, including iris atrophy, Corectopia, shallow anterior chamber, complete or partial angle closure, and advanced glaucoma. They also exhibited systemic anomalies, such as microdontia, hypodontia, and redundant periumbilical skin. A heterozygous splice-site variation c.390 + 1G > A in PITX2, which might lead to a truncated PITX2 protein (p.Val131IlefsX127), was found in the proband. Sanger sequencing validated that the variation completely co-segregated with the ARS phenotype within this family and was absent in 100 unrelated controls. Western blotting revealed that the nuclear PITX2 protein was significantly decreased in patients compared with controls. Nonetheless, there was no significant difference in the total PITX2 protein level, consistent with qPCR results showing no alteration in PITX2 mRNA levels in the patient group. Conclusions PITX2 c.390 + 1G > A (p.Val131IlefsX127) was a novel genetic etiology of the ARS pedigree. The mutation leads to decreased nuclear PITX2, indicating lower transcriptional activity.
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a novel frameshift mutation in the pitx2 gene in a family with axenfeld rieger syndrome using targeted exome sequencing
BMC Medical Genetics, 2019Co-Authors: Lusi Zhang, Xuanchu Duan, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Jingming ShiAbstract:Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been identified within ARS patients, accounting for 40 to 70% of cases. Our purpose is to describe clinical and genetic findings in a Chinese family with ARS. An ARS family with three affected members was recruited. The patients underwent a series of complete ophthalmologic examinations, general physical examination and dental radiography. DNA samples of proband II-1 were used for targeted exome sequencing of the FOXC1 and PITX2 genes. Sanger sequencing was used to validate the variation in PITX2. Quantitative real-time PCR was carried out to detect the expression of PITX2 in patients and normal controls. All affected members showed iris atrophy, Corectopia, shallow anterior chamber, complete or partial angle closure, and advanced glaucoma. In addition, they revealed systemic anomalies, including microdontia, hypodontia, and redundant periumbilical skin. A novel heterozygous frameshift variation, c.515delA, in PITX2 was found in the proband, which might lead to a truncated PITX2 protein (p.Gln172ArgfsX36). Sanger sequencing validated that the variation completely cosegregated with the ARS phenotype among this family, but was absent in 100 unrelated controls. Quantitative real-time PCR analysis revealed that the mRNA expression of PITX2 was significantly decreased in patients compared with that in unrelated normal controls. PITX2 c.515delA (p.Gln172ArgfsX36) was the genetic etiology of our pedigree. The mutation led to decreased PITX2 gene expression and a truncated mRNA transcript.
Robert Ritch - One of the best experts on this subject based on the ideXlab platform.
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iridocorneal endothelial syndrome in a 16 year old
Journal of Glaucoma, 2011Co-Authors: Olusola Olawoye, Christopher C Teng, Jeffrey M. Liebmann, Fred Wang, Robert RitchAbstract:: We report iridocorneal endothelial syndrome in a male who presented at the age of 16 years with a 3-year history of complaints of blurred vision, altered pupillary shape, and monocular diplopia OD. The examination was notable for unilateral effacement of the iris architecture, stretch holes, Corectopia, and localized ectropion uveae. Intraocular pressures were 41 mm Hg OD and 10 mm Hg OS. Gonioscopy revealed intermittent areas of broad synechiae anterior to Schwalbe's line alternating with a clinically normal appearance. The left eye and angle were unremarkable. Specular microscopy confirmed the presence of unilateral endothelial pleomorphism and polymegathism. To our knowledge, this is the earliest reported case of iridocorneal endothelial syndrome in a young man.
Carol L. Shields - One of the best experts on this subject based on the ideXlab platform.
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iridocorneal endothelial syndrome masquerading as iris melanoma in 71 cases
Archives of Ophthalmology, 2011Co-Authors: Carol L. Shields, Margaret V Shields, Vanessa Viloria, Haley Pearlstein, Jerry A. ShieldsAbstract:Objective To describe the clinical features of iridocorneal endothelial (ICE) syndrome in a group of patients referred because of suspected iris melanoma. Methods In a noncomparative case series, we performed medical record review for clinical features of ICE syndrome in 71 patients. Results At presentation, the median patient age was 54 years. All patients were referred for evaluation of a pigmented iris mass, suspected to be a melanoma. The iris color was blue or green in 51 (72%) and brown in 20 (28%). The mass proved to be a combination of iris stromal atrophy in 41 cases (58%) with exposure or loss of the underlying iris pigment epithelium; ectropion iridis in 24 (34%), imparting a disfigured iris with dark-brown color; iris nodules in 5 (7%); traction elevation with iris distortion from peripheral anterior synechia in 57 (80%); and Corectopia in 53 (75%), a feature commonly found with iris melanoma. The mean extent of iris atrophy was 2 clock hours. Ectropion iridis was unidirectional in 10 and multidirectional in 14. Additional features of ICE included corneal endothelial guttata-like changes in 33 (46%), corneal edema in 7 (10%), iris pigment epithelial transillumination defects in 12 (17%), polycoria in 1 (1%), and secondary glaucoma with intraocular pressure higher than 22 mm Hg in 7 (10%). Conclusions Iridocorneal endothelial syndrome can simulate iris melanoma. Features more suggestive of ICE syndrome include corneal endothelial guttata-like changes and edema, peripheral anterior synechia, multidirectional ectropion iridis, and iris atrophy.