[Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy].
OBJECTIVE
To detect genetic causes of Duchenne muscular dystrophy (DMD).


METHODS
Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results.


RESULTS
One case was found to have deletions of exons 10 and 11, 1 had exons 16 and 17 duplication, 4 cases have 8 point mutations including c.2776C>T, c.5475delA, c.6391_6392delCA, IVS64+1G>A, c.2645A>G, c.5244G>A, c.7728T>C, c.8729A>T, c.8734A>G and c.8810G>A. The former 4 mutations are suspicious pathogenicity, the other 6 mutations are polymorphisms in population. Three novel mutations (IVS64+1G>A, c.6391_6392delCA (p.Q2131NfsX3) and p.Q926X (CAG>TAG) were not reported before.


CONCLUSIONS
Next-generation sequencing technology is a useful tool for the detection of deletion, duplication and point mutation, which is valuable for clinical application.
Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002, P.R. China.
Min-juan
MJ
Liu
Min
M
Xie
Jun
J
Mao
Hong
H
Li
Wen-hua
WH
Yan
Ying
Y
Chen
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*