IMR Press / FBE / Volume 2 / Issue 2 / DOI: 10.2741/E113

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
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1 CEINGE Biotecnologie Avanzate, Naples, Italy
2 Department of Biochemistry and Medical Biotechnology, University of Naples, Federico II
3 Department of Health Sciences, University of Molise, Italy
4 IRCCS, Fondazione SDN, Naples, Italy, 5 Department of Neurological Sciences, University of Naples, Federico II, Italy

*Author to whom correspondence should be addressed.

Academic Editor: Giovanni Li Volti

Front. Biosci. (Elite Ed) 2010, 2(2), 547–558; https://doi.org/10.2741/E113
Published: 1 January 2010
(This article belongs to the Special Issue Biochemical markers in biological fluids)
Abstract

Duchenne (DMD) and Becker muscular dystrophies (BMD) are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene. In most cohorts, DMD/BMD are due to deletions (60-80%) and duplications (6-10%) involving one or more exons. The remaining cases are caused by different type of point mutations. We analyzed 179 unrelated male patients, 296 women belonging to 137 DMD/BMD families, and 93 independent patients referred for hyperCKemia. We identified 121 deletions and 11 duplications involving one or more exons and one complex rearrangement in the DMD/BMD patients, and 9 deletions in males referred for high levels of serum CK. Carrier status was investigated in 219 female relatives of deleted or duplicated DMD/BMD males, and by linkage analysis in 77 women belonging to families in which the causative mutation was not identified. Four carrier women with clinical manifestations of the disease had unbalanced X inactivation with a degree of X skewing between 70% and 93%. Large cohort studies from different geographic areas may be important for mutation typology comparisons and their appropriate analytical approach.

Keywords
Duchenne/Becker muscular dystrophy
Deletions
Duplications
MLPA
Linkage Analysis
Xinactivation
Noncontiguous Duplications
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