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Journal articles
A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.
Abstract : The common form of autosomal recessive non-syndromic deafness is caused by the mutation in gap junction beta 2 (GJB2) gene (GenBank M86849, OMIM# 121011) which is located at the DFNB1 locus at 13q11. GJB2 is a small gene about 5500-bp length with two exons, of which only one contains the coding region (Kelley et al. 2000). The sequence of the coding region consists of 681 bp, encoding a gap-junction protein with 226 amino acids (Schrijver 2004). The genetics of hearing loss is highly heterogeneous and more than 100 mutations in connexin 26 (GJB2) genes are reported to be responsible for 30%-40% of hereditary hearing loss in deaf subjects (Ballana et al. 2001; Schrijver 2004). The most frequent mutation 35delG has been detected in different populations; especially in European countries where it is established to be due to founder effect (Van Laer et al. 2001; Rothrock et al. 2003). In this study, we performed mutation screening in 33 families who met clinical criteria of non-syndromic hereditary hearing loss (NSHHL) to evaluate the type and frequency of GJB2 mutations in Iranian population.
Cited literature [15 references]
https://hal-riip.archives-ouvertes.fr/pasteur-00750567
Contributor : Mohammad Hamid Connect in order to contact the contributor
Submitted on : Sunday, November 11, 2012 - 7:28:52 AM
Last modification on : Wednesday, September 23, 2020 - 10:48:02 AM
Long-term archiving on: : Tuesday, February 12, 2013 - 2:45:09 AM
Contributor : Mohammad Hamid Connect in order to contact the contributor
Submitted on : Sunday, November 11, 2012 - 7:28:52 AM
Last modification on : Wednesday, September 23, 2020 - 10:48:02 AM
Long-term archiving on: : Tuesday, February 12, 2013 - 2:45:09 AM
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