Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease.
10.3760/cma.j.cn511374-20201026-00748
- Author:
Rui FAN
1
;
Honghua LU
;
Feiyu LU
;
Xiaoping LI
;
Shengnan ZHAO
;
Hongfeng SHI
;
Yining ZHANG
Author Information
1. The First Hospital of Jilin University, Changchun, Jilin 130021, China. yining@jlu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Asians/genetics*;
China;
Female;
Glycosylation;
Humans;
Male;
Mutation;
Pedigree;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(1):43-47
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD).
METHODS:Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing.
RESULTS:Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene.
CONCLUSION:The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.
