Genetic analysis of a child with Meier-Gorlin syndrome due to a variant of ORC6 gene.
10.3760/cma.j.cn511374-20221017-00690
- VernacularTitle:ORC6基因变异致Meier-Gorlin综合征患儿1例的遗传学分析
- Author:
Lili WANG
1
;
Fengyun WANG
;
Xiaoyan WANG
;
Linqi CHEN
Author Information
1. Department of Endocrinology, Metabolism and Genetic Disorders, Children's Hospital Affiliated to Soochow University, Suzhou, Jiangsu 215002, China. clq613203@aliyun.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Infant;
Male;
Computational Biology;
Congenital Microtia/genetics*;
Dwarfism/genetics*;
Growth Disorders/genetics*;
Origin Recognition Complex/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(10):1292-1295
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genetic characteristics of a child with Meier-Gorlin syndrome (MGS) due to a homozygous variant of the ORC6 gene.
METHODS:A child who was admitted to the Children's Hospital Affiliated to Soochow University on March 25, 2019 due to growth retardation was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.
RESULTS:The child, a 8-year-and-3-month-old male, has featured short stature, small ears, bilateral cryptorchidism and patellar dysplasia. His parents were of first cousins. The child was found to harbor a homozygous c.712A>T (p.K238*) missense variant of the ORC6 gene, which may lead to premature termination of protein translation. Sanger sequencing confirmed that both of his parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1_Moderate+PM2_Supporting+PM3+PP3+PP4).
CONCLUSION:The homozygous c.712A>T (p.K238*) variant probably underlay the MGS in this child.
