DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss
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DOI：
10.1016/j.ejmg.2011.07.003
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发表时间：
2011-11-01
影响因子：
1.9
通讯作者：
Masmoudi, Saber
中科院分区：
文献类型：
--
作者：
Bensaid, Mariem;Hmani-Aifa, Mounira;Masmoudi, Saber
我们之前将DFNB66位点定位到DFNB67区域重叠的区间。LHFPL5基因突变被确定为DFNB67听力损失（HL）的一个原因。然而，筛选LHFPL5的编码外显子未发现DFNB66家族的任何突变。本研究的目的是检查DFNB66和DFNB67是否是独特的基因座，并确定它们对HL的贡献。在DFNB66家族中，测序显示在非翻译区和LHFPL5的预测启动子序列中没有突变。对6p21.31-22.3区域的5个微卫星进行分析，并通过DHPLC的DNA异双体分析筛选LHFPL5基因，发现129个无亲亲性的突尼斯常染色体隐性非综合征（ARNS） HL家族中有1个家族出现了新的突变（c.89dup）。我们的研究结果表明，两个不同的基因负责DFNB66和DFNB67 HL。这些基因座很可能是导致ARNSHL的罕见原因。(C) 2011 Elsevier Masson SAS。版权所有。
We previously mapped the DFNB66 locus to an interval overlapping the DFNB67 region. Mutations in the LHFPL5 gene were identified as a cause of DFNB67 hearing loss (HL). However, screening of the coding exons of LHFPL5 did not reveal any mutation in the DFNB66 family. The objective of this study was to check whether DFNB66 and DFNB67 are distinctive loci and determining their contribution to HL. In the DFNB66 family, sequencing showed absence of mutations in the untranslated regions and the predicted promoter sequence of LHFPL5. Analysis of five microsatellites in the 6p21.31-22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis in DHPLC revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic (ARNS) HL. Our findings suggest that two distinct genes are responsible for DFNB66 and DFNB67 HL. These loci are likely to be a rare cause of ARNSHL. (C) 2011 Elsevier Masson SAS. All rights reserved.