Case report of limb girdle muscular dystrophy type 2S caused by maternal uniparental disomy on chromosome 4
10.3760/cma.j.cn101070-20200814-01346
- VernacularTitle:4号染色体母源单亲二倍体引起肢带型肌营养不良2S型1例
- Author:
Zeng NIU
1
;
Bingxiang MA
;
Xiubo DU
;
Rongyi ZHOU
;
Zheng ZHOU
;
Huawei LI
;
Weili DANG
;
Jiankui ZHANG
;
Ruixing LI
Author Information
1. 河南中医药大学第一附属医院儿童脑病诊疗康复中心，郑州 450099
- Keywords:
Limb girdle muscular dystrophy, type 2S;
TRAPPC11 gene;
Monodiploid;
Infant
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(1):64-66
- CountryChina
- Language:Chinese
-
Abstract:
A case of limb girdle muscular dystrophy type 2S (LGMD2S) caused by maternal uniparental disomy on chromosome 4 at the First Affiliated Hospital of Henan University of Chinese Medicine in March 2020 was reported.The female child, aged 9 months and 4 days, presented with developmental delay after bacterial meningitis in early infancy, decreased muscle strength in infancy and increased muscle and liver enzymes.Family genetic analysis showed that the child′s monodiploid in chromosome 4 was maternal origin, and the homozygous c. 1066T > G (p.Y356D) of TRAPPC11 gene may had pathogenic variation, which came from the child′s mother.The final diagnosis of LGMD2S was made according to the clinical manifestations and gene test results.LGMD2S is a rare autosomal recessive disease caused by the pathogenic variation of TRAPPC11 gene.Its clinical characteristics include proximal limb weakness, motor and intellectual retardation, seizures, motor disorders, elevated serum creatine kinase and muscular dystrophy like pathological changes in children.
