title: Ultrastructure of the hair in genetic prelingual deafness associated with the 35delG mutation in the connexin 26 gene (GJB2).
abstract: Ultrastructure of the surface of long hair in 77 subjects with a phenotype of childhood prelingual deafness was evaluated by scanning electron microscopy. The subjects were homozygous or heterozygous carriers of the 35delG mutation in the connexin 26 gene (GJB2). The presence of severe abnormalities in the marginal layer of the cuticular plate (fracture-like defects) is pathognomonic for homozygous carriers of the 35delG mutation. Ultrastructural characteristics of the hair in subjects with connexin-associated deafness significantly differed from those in healthy volunteers (control group of the same age) and deaf people with non-genetic hearing impairment. Analysis of variance revealed no differences in hair thickness between deaf homozygous and heterozygous carriers of the 35delG GJB2 gene mutation and healthy volunteers.
authors.affiliation: Laboratory for Hearing and Speech of the Research Center, Department of Otorhinolaryngology, I. P. Pavlov St. Petersburg State Medical University, Russia. s.jour@mail.ru
authors.forename: S G
authors.initials: SG
authors.lastname: Zhuravskiy
authors.forename: A A
authors.initials: AA
authors.lastname: Kurus
authors.forename: A E
authors.initials: AE
authors.lastname: Taraskina
authors.forename: S A
authors.initials: SA
authors.lastname: Ivanov
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006197:Hair / Q000648:ultrastructure*; D006720:Homozygote; D006801:Humans; D008855:Microscopy, Electron, Scanning; D009154:Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26