Two closely spaced nonsense mutations in the DMD gene in a Malaysian family

In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S > X and p.249Q &...

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Veröffentlicht in:Molecular genetics and metabolism 2011-07, Vol.103 (3), p.303-304
Hauptverfasser: Rani, Abdul Qawee, Malueka, Rusdy Ghazali, Sasongko, Teguh Haryo, Awano, Hiroyuki, Lee, Tomoko, Yagi, Mariko, Zilfalil, Bin Alwi, Salmi, A.B. Razak, Takeshima, Yasuhiro, Zabidi-Hussin, Z.A.M.H., Matsuo, Masafumi
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Sprache:eng
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Zusammenfassung:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S > X and p.249Q > X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2011.04.002