The Experts below are selected from a list of 108 Experts worldwide ranked by ideXlab platform
Ana Terezinha Marques Mesquita - One of the best experts on this subject based on the ideXlab platform.
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ENAMEL RENAL SYNDROME: A NOVEL HOMOZYGOUS FAM20A FOUNDER MUTATION IN 5 NEW BRAZILIAN FAMILIES
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology, 2019Co-Authors: Ana Terezinha Marques Mesquita, Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Esmeralda Maria Da Silveira, Rafaela Nogueira Moreira Gonçalves, Robert Kleta, Ricardo D. ColettaAbstract:Objective To investigate mutations in FAM20A of 11 unreported patients with ERS from 5 different Brazilian families. Study Design Clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing were performed in 11 patients with ERS. Results The patients' ages ranged from 6 to 25 years old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, spaced teeth, intrapulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicle, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal results in laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutations in FAM20A gene, characterized by 1 base pair deletion in exon 11 (c.1447 delG) and resulting in a premature stop codon at p.GLU483 LYSfsX24 were detected in all patients strongly suggesting a founder effect. Conclusions Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Here we report the largest series of patients with ERS of the same population, and describe, for the first time, a founder mutation for FAM20A gene. FAPEMIG, FAPESP, CAPES.
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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
European Journal of Medical Genetics, 2018Co-Authors: Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Robert Kleta, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Ana Terezinha Marques MesquitaAbstract:Abstract Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
Ricardo D. Coletta - One of the best experts on this subject based on the ideXlab platform.
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ENAMEL RENAL SYNDROME: A NOVEL HOMOZYGOUS FAM20A FOUNDER MUTATION IN 5 NEW BRAZILIAN FAMILIES
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology, 2019Co-Authors: Ana Terezinha Marques Mesquita, Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Esmeralda Maria Da Silveira, Rafaela Nogueira Moreira Gonçalves, Robert Kleta, Ricardo D. ColettaAbstract:Objective To investigate mutations in FAM20A of 11 unreported patients with ERS from 5 different Brazilian families. Study Design Clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing were performed in 11 patients with ERS. Results The patients' ages ranged from 6 to 25 years old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, spaced teeth, intrapulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicle, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal results in laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutations in FAM20A gene, characterized by 1 base pair deletion in exon 11 (c.1447 delG) and resulting in a premature stop codon at p.GLU483 LYSfsX24 were detected in all patients strongly suggesting a founder effect. Conclusions Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Here we report the largest series of patients with ERS of the same population, and describe, for the first time, a founder mutation for FAM20A gene. FAPEMIG, FAPESP, CAPES.
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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
European Journal of Medical Genetics, 2018Co-Authors: Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Robert Kleta, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Ana Terezinha Marques MesquitaAbstract:Abstract Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
Mauricio Rocha Dourado - One of the best experts on this subject based on the ideXlab platform.
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ENAMEL RENAL SYNDROME: A NOVEL HOMOZYGOUS FAM20A FOUNDER MUTATION IN 5 NEW BRAZILIAN FAMILIES
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology, 2019Co-Authors: Ana Terezinha Marques Mesquita, Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Esmeralda Maria Da Silveira, Rafaela Nogueira Moreira Gonçalves, Robert Kleta, Ricardo D. ColettaAbstract:Objective To investigate mutations in FAM20A of 11 unreported patients with ERS from 5 different Brazilian families. Study Design Clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing were performed in 11 patients with ERS. Results The patients' ages ranged from 6 to 25 years old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, spaced teeth, intrapulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicle, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal results in laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutations in FAM20A gene, characterized by 1 base pair deletion in exon 11 (c.1447 delG) and resulting in a premature stop codon at p.GLU483 LYSfsX24 were detected in all patients strongly suggesting a founder effect. Conclusions Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Here we report the largest series of patients with ERS of the same population, and describe, for the first time, a founder mutation for FAM20A gene. FAPEMIG, FAPESP, CAPES.
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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
European Journal of Medical Genetics, 2018Co-Authors: Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Robert Kleta, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Ana Terezinha Marques MesquitaAbstract:Abstract Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
Cássio Roberto Rocha Dos Santos - One of the best experts on this subject based on the ideXlab platform.
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ENAMEL RENAL SYNDROME: A NOVEL HOMOZYGOUS FAM20A FOUNDER MUTATION IN 5 NEW BRAZILIAN FAMILIES
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology, 2019Co-Authors: Ana Terezinha Marques Mesquita, Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Esmeralda Maria Da Silveira, Rafaela Nogueira Moreira Gonçalves, Robert Kleta, Ricardo D. ColettaAbstract:Objective To investigate mutations in FAM20A of 11 unreported patients with ERS from 5 different Brazilian families. Study Design Clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing were performed in 11 patients with ERS. Results The patients' ages ranged from 6 to 25 years old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, spaced teeth, intrapulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicle, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal results in laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutations in FAM20A gene, characterized by 1 base pair deletion in exon 11 (c.1447 delG) and resulting in a premature stop codon at p.GLU483 LYSfsX24 were detected in all patients strongly suggesting a founder effect. Conclusions Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Here we report the largest series of patients with ERS of the same population, and describe, for the first time, a founder mutation for FAM20A gene. FAPEMIG, FAPESP, CAPES.
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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
European Journal of Medical Genetics, 2018Co-Authors: Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Robert Kleta, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Ana Terezinha Marques MesquitaAbstract:Abstract Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
Robert Kleta - One of the best experts on this subject based on the ideXlab platform.
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ENAMEL RENAL SYNDROME: A NOVEL HOMOZYGOUS FAM20A FOUNDER MUTATION IN 5 NEW BRAZILIAN FAMILIES
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology, 2019Co-Authors: Ana Terezinha Marques Mesquita, Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Esmeralda Maria Da Silveira, Rafaela Nogueira Moreira Gonçalves, Robert Kleta, Ricardo D. ColettaAbstract:Objective To investigate mutations in FAM20A of 11 unreported patients with ERS from 5 different Brazilian families. Study Design Clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing were performed in 11 patients with ERS. Results The patients' ages ranged from 6 to 25 years old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, spaced teeth, intrapulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicle, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal results in laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutations in FAM20A gene, characterized by 1 base pair deletion in exon 11 (c.1447 delG) and resulting in a premature stop codon at p.GLU483 LYSfsX24 were detected in all patients strongly suggesting a founder effect. Conclusions Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Here we report the largest series of patients with ERS of the same population, and describe, for the first time, a founder mutation for FAM20A gene. FAPEMIG, FAPESP, CAPES.
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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
European Journal of Medical Genetics, 2018Co-Authors: Mauricio Rocha Dourado, Cássio Roberto Rocha Dos Santos, Robert Kleta, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Ana Terezinha Marques MesquitaAbstract:Abstract Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical Examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for Kidney Examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
