Yazdanpanahi Nasrin, Chaleshtori Morteza Hashemzadeh, Tabatabaiefar Mohammad Amin, Noormohammadi Zahra, Farrokhi Effat, Najmabadi Hossein, Shahbazi Shirin, Hosseinipour Azam
Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):845-50. doi: 10.1016/j.ijporl.2012.02.056. Epub 2012 Mar 23.
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.
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.
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.
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.
鉴于SLC26A4已被认为是伊朗以及许多其他国家听力损失（HL）的第二大病因，获取有关SLC26A4突变的更全面信息可促进为遗传性听力损失患者提供更有效的基因服务。本研究旨在检测两个伊朗听力损失家庭的遗传病因。
在本研究中，对来自伊朗霍尔木兹甘省和恰哈马哈勒-巴赫蒂亚里省的两个近亲家庭进行了与SLC26A4相关的4个短串联重复标记的基因连锁分析，这两个家庭共分离常染色体隐性听力损失，且在我们的初步调查中未发现GJB2突变。为了鉴定突变，对SLC26A4的所有21个外显子、外显子-内含子边界和启动子进行了DNA测序。
结果显示两个家庭均与该基因连锁。测序后，在两个研究家庭中发现了两个新的SLC26A4突变（外显子2中的c.65-66insT和外显子19中的c.2106delG）。
本研究结果强调了在耳聋分子诊断中考虑分析SLC26A4的必要性，尤其是当存在甲状腺肿或前庭导水管扩大等表型时。
