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首页> 外文期刊>European journal of human genetics: EJHG >SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

机译：SLC26A4基因在白种人人群中经常与非综合征性听力障碍和前庭导水管增大有关。

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摘要

Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4). While the prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established, it remains to be studied in large cohorts of patients with nonsyndromic deafness and detailed clinical informations. In this report, 109 patients from 100 unrelated families, aged from 1 to 32 years (median age: 10 years), with nonsyndromic deafness and enlarged vestibular aqueduct, were genotyped for SLC26A4 using DHPLC molecular screening and sequencing. In all, 91 allelic variants were observed in 100 unrelated families, of which 19 have never been reported. The prevalence of SLC26A4 mutations was 40% (40/100), with biallelic mutation in 24% (24/100), while six families were homozygous. All patients included in this series had documented deafness, associated with EVA and without any evidence of syndromic disease. Among patients with SLC26A4 biallelic mutations, deafness was more severe, fluctuated more than in patients with no mutation. In conclusion, the incidence of SLC26A4 mutations is high in patients with isolated deafness and enlarged vestibular aqueduct and could represent up to 4% of nonsyndromic hearing impairment. SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population.
机译：感觉神经性听力丧失是儿童中最常见的感觉缺陷，并且在多达75％的病例中是遗传起源的。已经显示，SLC26A4（PDS）基因的突变与先天性感音神经性听力障碍和甲状腺肿（Pendred综合征）所致的综合征性耳聋以及先天性孤立性耳聋（DFNB4）有关。尽管已明确确定Pendred综合征中SLC26A4突变的患病率，但仍需在大量非综合征性耳聋患者中进行研究，并提供详细的临床信息。在本报告中，使用DHPLC分子筛查和测序技术对SLC26A4进行了SLC26A4的基因分型，这些患者来自100个无关家庭，年龄在1至32岁（中位年龄：10岁），患有非综合征性耳聋和前庭导水管扩大。在100个无关家族中共观察到91个等位基因变体，其中19个从未报道过。 SLC26A4突变的患病率为40％（40/100），双等位基因突变的患病率为24％（24/100），而六个家族是纯合的。该系列中的所有患者均已记录为耳聋，伴有EVA，无任何症状性疾病的证据。在具有SLC26A4双等位基因突变的患者中，耳聋比没有突变的患者更严重，波动更大。总之，孤立性耳聋和前庭导水管扩大的患者中SLC26A4突变的发生率很高，可能占非综合征性听力障碍的4％。在该高加索人群中，SLC26A4可能是仅次于GJB2的第二次最常见的非综合征性耳聋基因。

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