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.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Yu H,Chen YC,Liu GL,Wu ZYdoi
10.4103/0366-6999.215338subject
Has Abstractpub_date
2017-10-05 00:00:00pages
2273-2278issue
19eissn
0366-6999issn
2542-5641pii
ChinMedJ_2017_130_19_2273_215338journal_volume
130pub_type
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journal_title:Chinese medical journal
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doi:
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