NDLI: GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Content Provider	PubMed Central
Author	Snoeckx, Rikkert L. Huygen, Patrick L. M. Feldmann, Delphine Marlin, Sandrine Denoyelle, Françoise Waligora, Jaroslaw Mueller-malesinska, Malgorzata Pollak, Agneszka Ploski, Rafal Murgia, Alessandra Orzan, Eva Castorina, Pierangela Ambrosetti, Umberto Nowakowska-szyrwinska, Ewa Bal, Jerzy Wiszniewski, Wojciech Janecke, Andreas R. Doris, Nekahm-heis Seeman, Pavel Olga, Bendova Kenna, Margaret A. Anna, Frangulov Rehm, Heidi L. Tekin, Mustafa Armagan, Incesulu Dahl, Hans-henrik M. Sart, Desirée Du Jenkins, Lucy Lucas, Deirdre Maria, Bitner-glindzicz Avraham, Karen B. Brownstein, Zippora Castillo, Ignacio Del Moreno, Felipe Blin, Nikolaus Pfister, Markus Sziklai, Istvan Toth, Timea Kelley, Philip M. Cohn, Edward S. Van, Maldergem Lionel Hilbert, Pascale Roux, Anne-françoise Michel, Mondain Hoefsloot, Lies H. Cremers, Cor W. R. J. Löppönen, Tuija Löppönen, Heikki Parving, Agnete Karen, Gronskov Schrijver, Iris Roberson, Joseph Gualandi, Francesca Martini, Alessandro Lina-granade, Geneviève Pallares-ruiz, Nathalie Correia, Céu Fialho, Graça Cryns, Kim Hilgert, Nele Van, De Heyning Paul Nishimura, Carla J. Smith, Richard J. H. Camp, Guy Van
Copyright Year	2005
Abstract	Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0–26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations ( P<.0001). The HI of 48 different genotypes was less severe than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25–40 dB). Two genotypes—35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)—had significantly more-severe HI than that of 35delG homozygotes.
Related Links	http://dx.doi.org/10.1086/497996
Ending Page	957
Page Count	13
Starting Page	945
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	6
Volume Number	77
Language	English
Publisher	The American Society of Human Genetics
Publisher Date	2005-12-01
Access Restriction	Open
Rights Holder	The American Society of Human Genetics
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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