Browsing by Author "Duman, Duygu"
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
Bademci, Guney; Foster, Joseph, II; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F. Basak; Menendez, Ibis (Nature Publishing Group, 2016)Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing ... -
Evidence for genotype-phenotype correlation for OTOF mutations
Yildirim-Baylan, Muzeyyen; Bademci, Guney; Duman, Duygu; Ozturkmen-Akay, Hatice; Tokgoz-Yilmaz, Suna; Tekin, Mustafa (Elsevier Ireland Ltd, 2014)Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with ... -
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Ramzan, Memoona; Duman, Duygu; Hendricks, LeShon Chere Peart; Guo, Shengru; Mutlu, Ahmet; Kalcioglu, Mahmut Tayyar; Seyhan, Serhat (Springernature, 2023)Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably ... -
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
Sirmaci, Asli; Walsh, Tom; Akay, Hatice; Spiliopoulos, Michail; Sakalar, Yildirim Bayezit; Hasanefendioglu-Bayrak, Aylin; Duman, Duygu (Cell Press, 2010)Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis blepharoptosis, epicanthus inversus, periumbil seal defects, and skeletal anomalies are seen in autosomal recessive Carnevale, Malpuech, ... -
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
Sirmaci, Asli; Duman, Duygu; Ozturkmen-Akay, Hatice; Erbek, Seyra; Incesulu, Armagan; Ozturk-Hismi, Burcu; Arici, Z. Serap (Elsevier Ireland Ltd, 2009)Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset ... -
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
Sineni, Claire J.; Yildirim-Baylan, Muzeyyen; Guo, Shengru; Camarena, Vladimir; Wang, Gaofeng; Tokgoz-Yilmaz, Suna; Duman, Duygu (Springer, 2019)While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we ...
