[MAB21L2基因变异所致小眼症/脉络膜缺损和骨骼发育异常综合征中国家系的遗传学分析及产前诊断]
[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with microphthalmia/coloboma and skeletal dysplasia syndrome due to variant of MAB21L2 gene].
作者信息
Tang Wenqing, Bai Zhouxian, Jiang Bo, Kong Xiangdong
机构信息
Central Laboratory, Liaocheng People's Hospital, Liaocheng, Shandong 252004, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):854-858. doi: 10.3760/cma.j.cn511374-20210707-00576.
OBJECTIVE
To explore the genetic basis for a Chinese pedigree affected with microphthalmia.
METHODS
Clinical data of the proband was collected. Whole exome sequencing (WES) was carried out to screen potential pathogenic variants in the proband. Candidate variant was verified by Sanger sequencing of the proband and his family members. Pathogenicity of the variant was predicted by searching the PubMed database and bioinformatic analysis. Sanger sequencing of amniotic fluid sample was carried out for prenatal diagnosis.
RESULTS
The proband and his father were found to harbor a heterozygous c.151C>G (p.R51G) variant of the MAB21L2 gene. The same variant was not found in his mother and grandparents. Based on the guidelines of American College of Medical Genetics, the c.151C>G (p.R51G) variant was predicted as likely pathogenic.
CONCLUSION
The c.151C>G (p.R51G) variant of the MAB21L2 gene probably underlay the microphthalmia in the proband. Above finding has facilitated prenatal diagnosis for this pedigree.
目的
探究一个患有小眼症的中国家系的遗传基础。
方法
收集先证者的临床资料。进行全外显子组测序（WES）以筛选先证者中潜在的致病变异。通过对先证者及其家庭成员进行Sanger测序来验证候选变异。通过检索PubMed数据库和生物信息学分析预测变异的致病性。对羊水样本进行Sanger测序以进行产前诊断。
结果
发现先证者及其父亲携带MAB21L2基因的杂合c.151C>G（p.R51G）变异。在其母亲和祖父母中未发现相同变异。根据美国医学遗传学学院的指南，c.151C>G（p.R51G）变异被预测为可能致病。
结论
MAB21L2基因的c.151C>G（p.R51G）变异可能是先证者小眼症的病因。上述发现有助于该家系的产前诊断。
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