Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss

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• 作者：Nasrin Yazdanpanahi^a ; ^{nasrin232002@yahoo.com} ; Morteza Hashemzadeh Chaleshtori^b ; Mohammad Amin Tabatabaiefar^b ; ^c ; Zahra Noormohammadi^a ; Effat Farrokhi^b ; Hossein Najmabadi^d ; Shirin Shahbazi^b ; Azam Hosseinipour^b
• 关键词：Novel mutation ; Pendrin ; Slc26a4 ; Pendred syndrome (PS) ; Deafness ; Linkage analysis ; Iran
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2012
• 期刊代码：135_01655876
• 类别：med
• 出版时间：June, 2012
• 卷：76
• 期：6
• 页码：845-850
• 文件大小：618 K

摘要

Objective

Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services to the patients with hereditary hearing loss. This investigation aims to detect genetic cause of two Iranian families with hearing loss.

Methods

In the present study, genetic linkage analysis via 4 short tandem repeat markers linked to SLC26A4 was performed for two consanguineous families originating from Hormozgan and Chaharmahal va Bakhtiari provinces of Iran, co-segregating autosomal recessive hearing loss and showed no GJB2 mutations in our preliminary investigation. For identification of mutations, DNA sequencing of SLC26A4 including all the 21 exons, exon-intron boundaries and the promoter was carried out.

Results

The results showed linkage to this gene in both families. After sequencing, two novel SLC26A4 mutations (c.65-66insT in exon 2 and c.2106delG in exon 19) were revealed in the two studied families.

Conclusion

Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present.