Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

PloS One
Fawziah MohammedLaila Bastaki

Abstract

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. DMD/BMD is caused by mutations in the Dystrophin gene on the X chromosome, leading to the absence of the essential muscle protein Dystrophin in DMD. In BMD, Dystrophin is partially functioning with a shorter protein product. Recent advances in molecular therapies for DMD require precise genetic diagnoses because most therapeutic strategies are mutation-specific. Hence, early diagnosis is crucial to allow appropriate planning for patient care and treatment. In this study, data from DMD/BMD patients who attended the Kuwait Medical Genetic Center during the last 20 years was retrieved from a Kuwait neuromuscular registry and analyzed. We combined multiplex PCR and multiplex ligation-dependent probe amplification (MLPA) with Sanger sequencing to detect Dystrophin gene mutations. A total of 35 different large rearrangements, 2 deletion-insertions (Indels) and 4 substitution mutations were identified in the 68 unrelated families. The deletion and duplication rates were 66.2% and 4.4%, respectively. The analyzed data from o...Continue Reading

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Citations

Dec 14, 2018·Journal of Personalized Medicine·Yusuke EchigoyaToshifumi Yokota
Jun 17, 2020·Molecular Genetics & Genomic Medicine·Edmond Wonkam-TingangAmbroise Wonkam
May 14, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Swati TomarPoh San Lai
Apr 9, 2021·Frontiers in Medicine·Dragan PrimoracJohannes Brachmann

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Methods Mentioned

BETA
PCR
biopsies
electrophoresis
antisense oligonucleotides

Software Mentioned

Pholyphen

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