隐性少牙症与 SMOC2 基因纯合功能丧失突变相关。
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
机构信息
Centre for Oral Growth & Development, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Turner Street, London E1 2AD, UK.
出版信息
Arch Oral Biol. 2013 May;58(5):462-6. doi: 10.1016/j.archoralbio.2012.12.008. Epub 2013 Jan 11.
OBJECTIVE
Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.
DESIGN
Exome sequencing was performed in two of affected members of the Pakistan family.
RESULTS
The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).
CONCLUSIONS
This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.
目的
最近，有报道称一些基因的突变或变异与许多综合征和非综合征形式的少牙症有关，包括 MSX1、PAX9、AXIN2、EDA 和 WNT10A。本研究旨在鉴定一个巴基斯坦少牙症和小牙症家系中致病突变。
设计
对巴基斯坦家系中两个受影响的成员进行外显子组测序。
结果
外显子组测序数据显示，受影响的个体为 SMOC2 基因第 8 外显子 c.681T>A（p.C227X）纯合突变。
结论
这是第二次报道 SMOC2 突变与少牙症和小牙症有关，强调了这种信号分子在牙齿发育中的关键作用。
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