[一个中国家系中轴前多指（趾）畸形的基因变异分析]
[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].
作者信息
Li Zhe, Zhou Yongan, Li Jianwei, Geng Junmei, Li Xingxing, Bai Yuan, Han Yaxin, Cheng Jianping, Qin Yanhong, Ren Ruirui
机构信息
The Second Medical College of Shanxi Medical University, Taiyuan, Shanxi 030001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Nov 10;38(11):1106-1109. doi: 10.3760/cma.j.cn511374-20200824-00620.
OBJECTIVE
To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.
METHODS
The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.
RESULTS
The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).
CONCLUSION
The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
目的
分析一个中国汉族家系中轴前多指（趾）畸形的致病变异，明确多指（趾）畸形的病因。
方法
提取先证者及其父母的外周血DNA。采用三联体全外显子测序检测与多指（趾）畸形相关的基因，筛选出可疑致病基因。对家系中的其他成员进行Sanger测序。
结果
基因测序结果显示，该家系6例患者的LMBR1基因存在c.423+4909（IVS5）C>T杂合变异。在表型正常的家庭成员中未检测到相同变异。根据美国医学遗传学与基因组学学会（ACMG）指南，LMBR1基因的c.423+4909（IVS5）C>T被预测为致病变异（PM1+PM2+PP1-S（PS）+PP4+PP5）。
结论
LMBR1基因第5内含子4909位的C>T杂合变异可能是该家系疾病的病因。
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