<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.</p></abstract>

Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

Spectrum and Frequency of the <italic>GJB2</italic> Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

Clinic of Medical Genetics, Children's Clinical University Hospital, Juglas iela 20, Rga, LV-1079, LATVIA

Centre for Hearing Impaired Children of Latvia, Lielvārdes iela 68/1, Rga, LV-1006, LATVIA

Rga Stradiņš University, Dzirciema iela 16, Rga, LV-1007, LATVIA

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

Spectrum and Frequency of the  Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired...

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

Data publikacji: 06 lis 2009

Zakres stron: 198 - 203

DOI: https://doi.org/10.2478/v10046-009-0031-8

Słowa kluczowe
hearing loss, GJB2, connexon, gap junction, DFNB1 - deafness autosomal recessive type 1

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