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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

Authors :
Hao Yu
Yu-Chao Chen
Gong-Lu Liu
Zhi-Ying Wu
Source :
Chinese Medical Journal, Vol 130, Iss 19, Pp 2273-2278 (2017)
Publication Year :
2017
Publisher :
Wolters Kluwer, 2017.

Abstract

Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. Methods: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited. The targeted next-generation sequencing (NGS) and the multiplex ligation-dependent probe analysis (MLPA) were performed in the proband. Blood tests, electrocardiography, echocardiography, and electromyography were also evaluated. Results: Two novel mutations of DMD gene were identified, c.7318C>T (p.Q2440*) in the male proband and c.4983dupA (p.A1662Sfs*24) in the female carrier. The MLPA analysis did not detect any large rearrangements. The haplotype analysis indicated that the two mutations were derived from de novo mutagenesis. Conclusions: We identified two novel de novo mutations of DMD gene in two Chinese pedigrees, one of which caused a female patient with muscular dystrophy. The mutational analysis is important for DMD patients and carriers in the absence of a family history. The NGS can help detect the mutations in MLPA-negative patients.

Details

Language :
English
ISSN :
03666999
Volume :
130
Issue :
19
Database :
Directory of Open Access Journals
Journal :
Chinese Medical Journal
Publication Type :
Academic Journal
Accession number :
edsdoj.7d6df49752e4c94a628bfe1b71bf1f7
Document Type :
article
Full Text :
https://doi.org/10.4103/0366-6999.215338