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

Abdul Qawee Rani; Rusdy Ghazali Malueka; Teguh Haryo Sasongko; Hiroyuki Awano; Tomoko Lee; Mariko Yagi; Bin Alwi Zilfalil; A B Razak Salmi; Yasuhiro Takeshima; Z A M H Zabidi-Hussin; Masafumi Matsuo

doi:10.1016/j.ymgme.2011.04.002

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

Mol Genet Metab. 2011 Jul;103(3):303-4. doi: 10.1016/j.ymgme.2011.04.002. Epub 2011 Apr 8.

Authors

Abdul Qawee Rani¹, Rusdy Ghazali Malueka, Teguh Haryo Sasongko, Hiroyuki Awano, Tomoko Lee, Mariko Yagi, Bin Alwi Zilfalil, A B Razak Salmi, Yasuhiro Takeshima, Z A M H Zabidi-Hussin, Masafumi Matsuo

Affiliation

¹ Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.

PMID: 21514860
DOI: 10.1016/j.ymgme.2011.04.002

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Asian People / genetics
Codon, Nonsense / genetics*
Dystrophin / genetics*
Exons
Genotype
Humans
Introns
Malaysia
Male
Muscular Dystrophy, Duchenne / genetics*

Substances

Codon, Nonsense
Dystrophin