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AJHG: REST截断体突变导致遗传性牙龈纤维瘤病

2017-07-22 MedSci MedSci原创

遗传性牙龈纤维瘤REST截断体突变
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在该研究中，研究人员发现了来自三个无关家系中的11个患有HGF的病例，全外显子测序结果发现所有家族的先证者出现了RE1沉默转录因子（REST）不同的截短体突变，包括两个移码突变和一个无义突变。

遗传性牙龈纤维瘤病（HGF）是牙龈纤维瘤病中最常见的遗传病，该病发展进程为慢性，通常为良性的，表现为局部的或全局化的角化牙龈增大。HGF是一种遗传异质性疾病，为常染色体显性遗传、常染色体隐性遗传或散发出现。目前，已经观察到与显性遗传分离的HGF性状相关联的遗传基因包括：四个定位于常染色体的基因座（2p22.1，2p23.3-p22.3，5q13-q22和11p15），一个基因（SOS1）。

研究人员发现了来自三个无关家系中的11个患有HGF的病例，全外显子测序结果发现所有家族的先证者出现了RE1沉默转录因子（REST）不同的截短体突变，包括两个移码突变和一个无义突变。后续的遗传分析和基因组分析证实了全外显子测序的结果。REST是一种全身性表达的转录抑制因子，该因子在不同的细胞中具有不同的作用，比如致癌性、肿瘤抑制功能、以及造血功能和调节心脏分化。总之，研究人员揭示了REST外显子截短突变对人发育和与HGF表型关联的后果。

原文出处：

Yavuz Bayram，et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. AM J HUM GENET. 6 July 2017

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    2018-04-07 xiangyuzhou971

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    2018-03-13 般若傻瓜

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    2017-07-24 lixiao3332

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