1. A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients
- Author
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Morteza Karimipoor, Mohammad Hamid, Mohammad Esmaeil Akbari, Morteza Hashemzadeh Chaleshtori, Molecular Medicine Department, Réseau International des Instituts Pasteur (RIIP)-Institut Pasteur d'Iran, Réseau International des Instituts Pasteur (RIIP), Shahrekord University, Tehran Medical Genetics Laboratory, Tehran Medical Genetics Laboratory [Iran], Tarbiat Modaras University, and We t hank t he st a ff of Dr Akbari’s Medical Genetic Laboratory for their contribution for this study and also our patients for their col- laboration.
- Subjects
DNA Mutational Analysis ,Iran ,MESH: Base Sequence ,Connexins ,Loss of heterozygosity ,MESH: Genotype ,Exon ,0302 clinical medicine ,Coding region ,MESH: DNA Mutational Analysis ,10. No inequality ,Genetics ,0303 health sciences ,Iranian population ,MESH: Case-Control Studies ,3. Good health ,Connexin 26 ,medicine.symptom ,35delG ,MESH: Mutation ,Genotype ,Hearing loss ,Molecular Sequence Data ,human genetics ,Locus (genetics) ,Biology ,03 medical and health sciences ,medicine ,otorhinolaryngologic diseases ,Humans ,connexin 26 (Cx26) ,MESH: Hearing Loss ,Allele frequency ,030304 developmental biology ,hearing loss ,MESH: Humans ,MESH: Molecular Sequence Data ,Base Sequence ,gap junction beta-2 (GJB2) ,Molecular biology ,MESH: Connexins ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Case-Control Studies ,Mutation ,Hereditary Diseases ,MESH: Iran ,030217 neurology & neurosurgery ,Founder effect - Abstract
International audience; 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.
- Published
- 2009