title: [Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].
abstract: Autosomal recessive non-syndromic hearing loss is the most common form of inherited childhood deafness. Identification of the responsible gene in this type of hearing loss presents difficulties because of marked genetic heterogenicity and limited clinical presentation. A two-year-old girl was referred to our clinic because of congenital hearing loss. Family history showed that her brother and six relatives of her parents were also affected by unilateral or bilateral hearing loss. There was no consanguinity between the parents, though they were from close villages. Audiometric studies revealed severe bilateral sensorineural hearing loss. Molecular analysis of the index patient documented that autosomal recessive non-syndromic hearing loss resulted from the homozygous 35delG mutation in the connexin 26 gene.
authors.affiliation: Department of Medical Biology, Medicine Faculty of Pamukkale University, Denizli, Turkey. fduzcan@pamukkale.edu.tr
authors.forename: Füsun
authors.initials: F
authors.lastname: Düzcan
authors.forename: Bernd
authors.initials: B
authors.lastname: Wollnik
authors.forename: Emre
authors.initials: E
authors.lastname: Tepeli
authors.forename: F Necdet
authors.initials: FN
authors.lastname: Ardiç
authors.forename: Oya
authors.initials: O
authors.lastname: Uyguner
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Bağci
mesh_terms: D001299:Audiometry; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D017630:Connexins