Analysis of clinical phenotype and genotype of children with centronuclear myopathy and follow-up study
10.3760/cma.j.cn101070-20190909-00861
- VernacularTitle:儿童中央核肌病临床基因型分析及随访研究
- Author:
Jingxin DONG
1
;
Jieyu LIU
;
Yu ZHANG
;
Tong LIU
;
Hui YAN
;
Lun QIN
;
Hui XIONG
;
Xingzhi CHANG
Author Information
1. 北京大学第一医院儿科 100034；甘肃省武威市凉州医院儿一科，甘肃 武威 733000
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(19):1476-1479
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the phenotype, genotype and clinical course of centronuclear myopathy(CNM) in children.Methods:Clinical data of patients with CNM in the Department of Pediatrics, Peking University First Hospital from October 2008 to December 2018 were collected.The clinical, pathological and genetic data of 9 children with CNM were retrospectively analyzed.The patients were followed up from 8 months to 8.6 years [(4.4±3.1) years].Results:(1)Clinical phenotype: there were 6 males and 3 females with onset age ranging from 1 d to 10 years.Generalized muscle weakness or motor retardation was the main complaint in 8 cases, while elevated muscle enzymes presented in 1 case.Varying degrees of skeletal muscle weakness were noted on examination in all patients, with facial muscle involvement in 4 cases.Six patients were followed up.No deterioration in motor function was noted, while 2 patients had improvement.There was no significant cardiac involvement in all 6 patients.Scoliosis occurred in 4 patients.Restrictive ventilator disorder developed in 2 out of the 5 patients who underwent pulmonary function tests.(2)Genotype: 8 out of 9 patients underwent gene test, confirmed gene diagnosis in 4 patients including: DNM2 gene (c.1856C>T, c.1893+ 1G>A was novel) de novo heterozygous mutation in 2 cases, RYR1 gene (c.2044C>G, c.6823G>A, both were novel) compound heterozygous mutation in 1 case, and TTN gene (c.107377+ 1G>A, c.2106_2107 insAAGCTGTA was novel) compound heterozygous mutation in 1 case. Conclusions:The course of centronuclear myopathy is relatively static, with more frequent involvement of facial muscles than myocardium.This study enriched the gene mutation spectrum of centronuclear myopathy (4 novel mutations).
