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Your search keyword '"Demet Tekin"' showing total 2 results
Start Over Author "Demet Tekin" Journal annals of human genetics
2 results on '"Demet Tekin"'

1. Targeted Resequencing of Deafness Genes Reveals a FounderMYO15AVariant in Northeastern Brazil

Author

Têmis M. Félix, Angelina Xavier Acosta, Isalis Sanchez-Pena, Gabrielle N. Manzoli, Xue Zhong Liu, Mustafa Tekin, Ibis Menéndez, Susan H. Blanton, F. Basak Cengiz, Guney Bademci, Joseph Foster, Kiyoko Abe-Sandes, Danniel da Silva, and Demet Tekin

Subjects
0301 basic medicine, Genetics, Proband, MYO15A, Genetic heterogeneity, Hearing loss, Haplotype, 030105 genetics & heredity, Biology, 03 medical and health sciences, 030104 developmental biology, Genetic etiology, medicine, medicine.symptom, Gene, Genetics (clinical)
Abstract

Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil. Haplotype analysis of this variant was consistent with a single founder. No other cases with this variant were detected among 105 simplex cases from other cities of northeastern Brazil, suggesting that this variant is confined to a geographical region. This study suggests that it is feasible to develop population-specific screening for deafness variants once causative variants are identified in different geographical groups.

Published
2016
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2. Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Author

Gabrielle N, Manzoli, Guney, Bademci, Angelina X, Acosta, Têmis M, Félix, F Basak, Cengiz, Joseph, Foster, Danniel S Dias, Da Silva, Ibis, Menendez, Isalis, Sanchez-Pena, Demet, Tekin, Susan H, Blanton, Kiyoko, Abe-Sandes, Xue Zhong, Liu, and Mustafa, Tekin

Subjects
Haplotypes, Case-Control Studies, Claudins, DNA Mutational Analysis, Mutation, Missense, Humans, Genetic Predisposition to Disease, Myosins, Hearing Loss, Brazil, Founder Effect, Genetic Association Studies, Article
Abstract

Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil. Haplotype analysis of this variant was consistent with a single founder. No other cases with this variant were detected among 105 simplex cases from other cities of northeastern Brazil, suggesting that this variant is confined to a geographical region. This study suggests that it is feasible to develop population-specific screening for deafness variants once causative variants are identified in different geographical groups.

Published
2016

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