title: Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.
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.
authors.affiliation: Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
authors.forename: Abdul Qawee
authors.initials: AQ
authors.lastname: Rani
authors.forename: Rusdy Ghazali
authors.initials: RG
authors.lastname: Malueka
authors.forename: Teguh Haryo
authors.initials: TH
authors.lastname: Sasongko
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Awano
authors.forename: Tomoko
authors.initials: T
authors.lastname: Lee
authors.forename: Mariko
authors.initials: M
authors.lastname: Yagi
authors.forename: Bin Alwi
authors.initials: BA
authors.lastname: Zilfalil
authors.forename: A B Razak
authors.initials: AB
authors.lastname: Salmi
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Z A M H
authors.initials: ZA
authors.lastname: Zabidi-Hussin
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005838:Genotype; D006801:Humans; D007438:Introns; D008296:Malaysia; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D016189:Dystrophin