[两个患有科芬-西里斯综合征的中国家系中ARID1B基因变异分析]
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
作者信息
Xiang Yanbao, Wan Ru, Li Huanzheng, Xu Chenyang, Xu Yunzhi, Tang Shaohua
机构信息
Central Laboratory, Key Laboratory of Birth Defects of Wenzhou City, Wenzhou Central Hospital, Wenzhou, Zhejiang 325000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):282-285. doi: 10.3760/cma.j.cn511374-20201204-00845.
OBJECTIVE
To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).
METHODS
Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.
RESULTS
The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION
The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.
目的
探究两个患科芬-西里斯综合征（CSS）的中国家系的遗传基础。
方法
对先证者进行全外显子组测序（WES）。通过对先证者及其家庭成员进行桑格测序来验证候选变异。
结果
分别在两名先证者中发现了ARID1B基因的杂合c.5467delG（p.Gly1823fs）变异和杂合c.5584delA（p.Lys1862fs）变异，二者均为新发且此前未报道过。根据美国医学遗传学与基因组学学会的指南，这两个变异均被预测为致病性变异（PVS1+PS2+PM2）。
结论
ARID1B基因的c.5467delG（p.Gly1823fs）和c.5545delA（p.Lys1849fs）变异可能是两名先证者患CSS的病因。上述结果为家系进行遗传咨询和产前诊断提供了依据。
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