Clinical characteristics and gene mutation in patients with pseudo hypertrophic muscular dystrophy
10.3760/cma.j.cn431274-20190828-00996
- VernacularTitle:假性肥大型肌营养不良患者的临床特点和基因突变情况
- Author:
Huifang PENG
1
;
Yaya LU
;
Yingyu ZHANG
;
Dan LOU
;
Hongwei JIANG
Author Information
1. 河南科技大学临床医学院，河南科技大学第一附属医院，洛阳 471003；洛阳市内分泌代谢病临床医学研究中心 471003
- From:
Journal of Chinese Physician
2020;22(10):1501-1504
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and gene detection methods of pseudohypertrophic muscular dystrophy, and to provide evidence for gene diagnosis and genetic counseling.Methods:Ten patients with pseudohypertrophic muscular dystrophy diagnosed clinically in the First Affiliated Hospital of Henan University of Science and Technology from March 2018 to March 2019 were selected. The clinical features were analyzed and multiplex ligation probe amplification technique (MLPA) was detected, and exon sequencing was performed in some patients.Results:Ten patients with clinical diagnosis were diagnosed as pseudohypertrophic muscular dystrophy in 9 cases and limb band muscular atrophy in 1 case. The ratio of male to female was 8∶1 in 9 cases. Exon region large deletion of Duchenne muscular dystrophy (DMD) gene was found in 6 cases, and point new mutation in 3 cases. The three possible new mutations of DMD gene were c. 10222delA、c.5697dupA、c.676_678del.Conclusions:Patients with typical symptoms but inconsistent with X-linked recessive inheritance still need DMD genetic detecting; patients with negative MLPA testing need full exon sequencing; patients with mental retardation should pay attention to avoid misdiagnosis.
