A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family
A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family
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DOI：
10.1016/j.archoralbio.2014.04.004
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发表时间：
2014-07-01
影响因子：
3
通讯作者：
Ismail, Suzan R.
中科院分区：
文献类型：
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作者：
Abdalla, Ebtesam M.;Mostowska, Adrianna;Ismail, Suzan R.
目的：牙发育不全是最常见的牙列畸形，其病因尚未完全阐明。本研究的目的是调查的遗传原因的非综合征性先天性牙齿发育不全的临床变异在埃及family.Design：整个编码区，包括外显子-内含子边界的MSX 1，PAX 9和WNT 10A基因进行了调查，通过直接测序在所有受影响的家庭members.Results：新的杂合突变，在WNT 10A基因的常染色体显性遗传方式被确定。这种21-bp的缺失与1-bp的插入相结合，c. 14_7delinsC消除了翻译起始密码子，导致不产生蛋白质或翻译替代开放阅读框。没有一个对照组（400条染色体）是这种新型WNT 10A突变的携带者。在MSX 1和PAX 9基因中未发现致病性突变。14_7delinsC突变可能是导致埃及恒牙发育不全的WNT 10A基因的致病变异。WNT 10A基因是非综合征性缺牙的主要候选基因。(C)2014爱思唯尔有限公司版权所有。
Objective: Tooth agenesis is the most common dental anomaly, whose aetiology still remains to be fully elucidated. The aim of this study was to investigate the genetic cause of non-syndromic hypodontia with clinical variability in an Egyptian family.Design: The entire coding regions including exon-intron boundaries of the MSX1, PAX9 and WNT10A genes were investigated by direct sequencing in all affected family members.Results: Novel heterozygous mutation inherited in an autosomal dominant manner was identified in the WNT10A gene. This 21-bp deletion combined with 1-bp insertion, c.-14_7delinsC, eliminates the translation initiation codon leading to either no protein production or translation of alternative open reading frames. None of the control subjects (400 chromosomes) were carriers of this novel WNT10A mutation. No pathogenic mutations were found in the MSX1 and PAX9 genes.Conclusions: The novel c.-14_7delinsC mutation might be the etiological variant of the WNT10A gene responsible for the permanent tooth agenesis in the Egyptian family. WNT10A is a major candidate gene for non-syndromic hypodontia. (C) 2014 Elsevier Ltd. All rights reserved.