Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
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DOI：
10.1016/j.ijporl.2010.06.002
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发表时间：
2010-09-01
影响因子：
1.5
通讯作者：
Marlin, Sandrine
中科院分区：
文献类型：
--
作者：
Jonard, Laurence;Niasme-Grare, Magali;Marlin, Sandrine
目的：目的探讨SLC 26 A4、FOXI和KCNJ 10基因在同侧内耳畸形（前庭导水管闭锁和/或Mondini发育不良）伴单侧听力损害中的意义。方法收集25例单侧听力损害伴同侧前庭导水管扩大的患者，对每例患者进行SLC 26 A4、FOXI 1和KCNJ 10基因序列分析。SLC 26 A4的分析仅揭示了8个杂合SLC 26 A4序列变体，其中3个是新的（p.Met147Ile、p.Asn538Asn和p.Leu627Arg）。没有一个患者在另一个等位基因上携带第二个突变。而且。SLC 26 A4位点在两个家系中被排除。FOXI 1和KCNJ 10基因未发现突变。FOXI 1和KCNJ 10与Pendred综合征和非综合征性双侧前庭水管扩大相比，不是单侧耳聋和前庭水管扩大的主要决定因素。(C)2010爱思唯尔爱尔兰有限公司版权所有
Objective: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia)Methods We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct For each of the patients, we have analyzed SLC26A4, FOXI1 and KCNJ10 genes sequences.Results. The analysis of SLC26A4 revealed only eight heterozygous SLC26A4 sequence variants, three of them being novel (p.Met147Ile, p.Asn538Asn and p.Leu627Arg). None of the patients carried a second mutation on the other allele. Moreover. the SLC26A4 locus was excluded by segregation analysis in two families. No mutations were present in FOXI1 and KCNJ10 genesConclusions Together, these data suggest that SLC26A4. FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. (C) 2010 Elsevier Ireland Ltd All rights reserved