[在一个患有先天性脊椎骨骺发育不良的家系中鉴定出一种新型COL2A1变体]
[Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita].
作者信息
Wang Yuxian, Xiao Han, Wang Zhe, Zhao Na, Xue Yu
机构信息
Department of Obstetrics, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):694-696. doi: 10.3760/cma.j.issn.1003-9406.2019.07.009.
OBJECTIVE
To explore the molecular basis for a pedigree affected with spondyloepiphyseal dysplasia congenita (SEDC).
METHODS
The proband was subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing.
RESULTS
All patients from the pedigree were found to carry a novel missense variant c.1394G>C (p.Gly465Ala) of the COL2A1 gene. The variant was not reported previously. Provean, Polyphen-2 and Mutation Taster software predicted that the variant is highly likely to be pathogenic.
CONCLUSION
The c.1394G>C (p.Gly465Ala) variant of the COL2A1 gene probably underlies the SEDC in this pedigree.
目的
探究一个先天性脊柱骨骺发育不良（SEDC）家系的分子基础。
方法
对先证者进行全外显子组测序。通过桑格测序验证疑似变异。
结果
该家系所有患者均被发现携带COL2A1基因的一个新的错义变异c.1394G>C（p.Gly465Ala）。该变异此前未见报道。Provean、Polyphen-2和Mutation Taster软件预测该变异极有可能具有致病性。
结论
COL2A1基因的c.1394G>C（p.Gly465Ala）变异可能是这个家系中SEDC的病因。
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