شناسایی یک جهش Founder (بنیانگذار) برای سندرم پندرد در خانواده از شمال غربی ایران

محسنی, مرضیه and هنرپور, عسل and مظفری, رضا and داورنیا, بهزاد and نجم آبادی, حسین and کهریزی, کیمیا (1393) شناسایی یک جهش Founder (بنیانگذار) برای سندرم پندرد در خانواده از شمال غربی ایران. International Journal of Pediatric Otorhinolaryngology ــ 78 (11). pp. 1824-1832. شاپا 0165-5876


Official URL: http://www.sciencedirect.com/science/journal/01655...


Identification of a founder mutation for Pendred syndrome in families from northwest Iran

English Abstract

Objective: Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 mutations vary among different communities. Previous studies have shown that mutations in the SLC26A4 gene are responsible for the more common syndromic hereditary hearing loss in Iran. This study assesses the possibility of a founder mutation for Pendred syndrome in northwest Iran. Materials and methods: In this study, we performed comprehensive clinical and genetic evaluations in two unrelated families from northwest Iran with nine members affected by hearing loss (HL). After testing short tandem repeat (STR) markers to confirm linkage to the SLC26A4 locus, we screened the SLC26A4 gene by Sanger sequencing of all 21 exons, exon–intron boundaries and the promoter region for any causative mutation. We identified the same causative mutation in these two families as we had detected earlier in two other Azeri families from northwest Iran. To investigate the possibility of a founder effect in these four families, we conducted haplotype analysis, and 14 single nucleotide polymorphisms (SNPs) throughout the SLC26A4 gene were genotyped. Results: Patients in the two families showed the phenotype of Pendred syndrome. A known frameshift mutation (c.965insA, p.N322Fs7X) in exon 8 was identified in the two families, which was the same mutation that we detected previously in two other Azeri families. The results of haplotype analysis showed that all 15 patients from four families shared the founder mutation. Common haplotypes were not observed in noncarrier members. Conclusions: Based on the results of our two studies, the c.965insA mutation has only been described in Iranian families from northwest Iran, so there is evidence for a founder mutation originating in this part of Iran.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :مرضیه محسنی
نویسنده :بهزاد داورنیا
نویسنده مسئول :کیمیا کهریزی
Additional Information:Impact Factor (2014) 1.186 Indexed in: ISI, Pubmed/Medline/Index Medicus, Scopus, BIOSIS, Elsevier BIOBASE, Current Advances in Cancer Research, Current Contents/Life Sciences, Index Copernicus, EMBASE, Neuroscience Citation Index
کلیدواژه ها (انگلیسی):Pendred syndrome, SLC26A4 gene, Linkage analysis, Haplotype analysis, Founder mutation, Iran
Subjects:WV Otolaryngology
Divisions:Faculty of Medicine > Department of Basic Sciences > Department of Genetics
ID Code:8485
Deposited By: Dr Behzad Davarnia
Deposited On:20 Nov 1395 09:56
Last Modified:20 Nov 1395 09:56

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