Pediatric Neurology Unit, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
Am J Med Genet A. 2011 May;155A(5):1170-2. doi: 10.1002/ajmg.a.33972. Epub 2011 Apr 4.
Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R1572X) in nine patients of Ashkenazi Jewish origin who had severe-profound congenital non-progressive ARNSHL and benefited from cochlear implants. Upon screening for the mutation among 719 anonymous Ashkenazi-Jews we detected four carriers, indicating a carrier rate of 1:180 Ashkenazi Jews. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community.
常染色体隐性非综合征型感音神经性听力损失（ARNSHL）在阿什肯纳兹犹太人中，主要由 GJB2 和 GJB6 基因突变引起。在这里，我们描述了 LOXHD1 基因的一种新的纯合突变，导致 9 名阿什肯纳兹犹太裔起源的患者出现过早终止密码子（R1572X），他们患有严重-重度先天性进行性 ARNSHL，并受益于人工耳蜗植入。在对 719 名匿名阿什肯纳兹犹太人进行突变筛查时，我们发现了 4 名携带者，表明携带者频率为 1:180 阿什肯纳兹犹太人。这是 LOXHD1 基因的第二个报道的突变，其在 39 个先天性 ARNSHL 的阿什肯纳兹犹太家族中的两个家族中纯合存在，表明其可能占该社区家族病例的 5%左右。
