Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I.
10.3760/cma.j.cn511374-20220107-00016
- Author:
Guangyu WANG
1
;
Ling XU
;
Dandan ZHAO
;
Chuanzhu YAN
;
Pengfei LIN
Author Information
1. Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China. lpfsdu@foxmail.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Pedigree;
Pentosyltransferases/genetics*;
Muscle, Skeletal;
Proteins/genetics*;
Muscular Dystrophies, Limb-Girdle/genetics*;
Mutation;
China
- From:
Chinese Journal of Medical Genetics
2022;39(11):1205-1210
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic variants of three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I (LGMD2I).
METHODS:Clinical data and peripheral blood samples of the three probands and their family members were collected. Whole exome sequencing was carried out for the probands. Candidate variants were verified by Sanger sequencing of their family members.
RESULTS:Probands 1 and 2 both featured weakness in the lower limbs. Proband 1 had lost walking ability and had pulmonary ventilation dysfunction. Proband 3 had lower limb pain, palpitations and asthma after exercise. Genetic sequencing revealed that proband 1 harbored compound heterozygous c.545A>G (p.Y182C) and c.1391A>T (p.N464I) variants of the FKRP gene, proband 2 harbored compound heterozygous c.545A>G (p.Y182C) and c.941C>T (p.T314M) variants of the FKRP gene, and proband 3 harbored compound heterozygous c.545A>G (p.Y182C) and c.161G>A (p.R54Q) variants. Among these, the c.161G>A (p.R54Q) variant was unreported previously.
CONCLUSION:Compound heterozygous variants of the FKRP gene probably underlay the LGMD2I in the three patients. Whole exome sequencing is crucial for the diagnosis of LGMD2I. The identification of the novel variant also broadened the mutational spectrum of the FKRP gene.
