Aslı Subaşıoğlu1, Duygu Duman2, Aslı Sırmacı3, Güney Bademci3, Fehime Carkıt4, Mehmet Akif Somdaş5, Mustafa Erkan5, Mustafa Tekin3, Munis Dündar1. 1. Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey. 2. Department of Pediatrics, Division of Pediatric Genetic Diseases, Ankara University Faculty of Medicine, Ankara, Turkey. 3. Division of Human Genetics, John T. Macdonald, Miami University Miller Medical Faculty, Miami, USA. 4. Division of Odiology, Kayseri Education and Research Hospital, Kayseri, Turkey. 5. Department of Otolaryngology, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Abstract
AIM: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families. MATERIAL AND METHODS: Twenty-one families with at least two affected individuals and parental consanguinity who presented with non-syndromic severe-to-profound sensorineural hearing loss were included in this study. We first screened for mutations in GJB2 and mitochondrial DNA 12S RNA genes. Subsequently, we genotyped the TMIE c.250C>T and SNP markers flanking the SLC26A4, MYO7A, MYO15A, OTOF, CDH23, TMIE, TECTA, PCDH15, TMC1, TMPRSS3, TMHS genes in the remaining twelve families without mutations in GJB2. RESULTS: Screening for mutations in GJB2 gene showed c.[35delG];[35delG] mutation in four families, c.[35delG];[507C>A] mutation in two families, c.[35delG];[-23+1G>A] mutation in one family, and c.457G>A heterozygous mutation in one family. Genotyping SNP markers showed the c.[250C>T];[250C>T] mutation in TMIE in one family. A homozygous region with SNP genotypes was detected with the OTOF gene in one family, the TMPRSS3 gene in another family, and also a homozygous region was detected with TMHS, OTOF, and TMPRSS3 genes in another family. CONCLUSIONS: Further research will be required to determine the genetic bases of hearing loss in families with non-syndromic hearing loss.
AIM: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families. MATERIAL AND METHODS: Twenty-one families with at least two affected individuals and parental consanguinity who presented with non-syndromic severe-to-profound sensorineural hearing loss were included in this study. We first screened for mutations in GJB2 and mitochondrial DNA 12S RNA genes. Subsequently, we genotyped the TMIE c.250C>T and SNP markers flanking the SLC26A4, MYO7A, MYO15A, OTOF, CDH23, TMIE, TECTA, PCDH15, TMC1, TMPRSS3, TMHS genes in the remaining twelve families without mutations in GJB2. RESULTS: Screening for mutations in GJB2 gene showed c.[35delG];[35delG] mutation in four families, c.[35delG];[507C>A] mutation in two families, c.[35delG];[-23+1G>A] mutation in one family, and c.457G>A heterozygous mutation in one family. Genotyping SNP markers showed the c.[250C>T];[250C>T] mutation in TMIE in one family. A homozygous region with SNP genotypes was detected with the OTOF gene in one family, the TMPRSS3 gene in another family, and also a homozygous region was detected with TMHS, OTOF, and TMPRSS3 genes in another family. CONCLUSIONS: Further research will be required to determine the genetic bases of hearing loss in families with non-syndromic hearing loss.
Entities:
Keywords:
Hearing loss; microarray; sequence; single nucleotide polymorphism
Authors: T Sobe; S Vreugde; H Shahin; M Berlin; N Davis; M Kanaan; Y Yaron; A Orr-Urtreger; M Frydman; M Shohat; K B Avraham Journal: Hum Genet Date: 2000-01 Impact factor: 4.132
Authors: Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Saima Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J H Smith; Edward R Wilcox Journal: Am J Hum Genet Date: 2002-07-24 Impact factor: 11.025
Authors: A Sirmaci; H Oztürkmen-Akay; S Erbek; A Incesulu; D Duman; S Taşir-Yilmaz; H Ozdağ; M Tekin Journal: Clin Genet Date: 2009-05-05 Impact factor: 4.438
Authors: B Y Choi; Z M Ahmed; S Riazuddin; M A Bhinder; M Shahzad; T Husnain; S Riazuddin; A J Griffith; T B Friedman Journal: Clin Genet Date: 2009-03 Impact factor: 4.438