Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome.
10.3760/cma.j.cn511374-20200605-00408
- Author:
Ran WANG
1
;
Jingjing PEI
;
Xinye JIANG
;
Bingbing GUO
;
Caiqin GUO
Author Information
1. Department of Child Health Care, Wuxi Maternal and Child Health Care Hospital, Wuxi, Jiangsu 214000, China. pjj2001@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Dwarfism;
Face/abnormalities*;
Genetic Diseases, X-Linked;
Genitalia, Male/abnormalities*;
Guanine Nucleotide Exchange Factors/genetics*;
Hand Deformities, Congenital/genetics*;
Heart Defects, Congenital;
Humans;
Male;
Mutation
- From:
Chinese Journal of Medical Genetics
2021;38(8):757-760
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.
METHODS:Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.
RESULTS:The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).
CONCLUSION:The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.
