Open Access
Article
A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
Antonella Carsana1,Giulia Frisso1,Mariano Intrieri1,Maria Roberta Tremolaterra1,Giovanni Savarese1,Giovanni Scapagnini1,Gabriella Esposito1,Lucio Santoro1,Francesco Salvatore1
1
CEINGE Biotecnologie Avanzate, Naples, Italy
DOI: 10.2741/E113 Volume 2 Issue 2, pp.547-558
Published: 01 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.

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Antonella Carsana, Giulia Frisso, Mariano Intrieri, Maria Roberta Tremolaterra, Giovanni Savarese, Giovanni Scapagnini, Gabriella Esposito, Lucio Santoro, Francesco Salvatore. A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort. Frontiers in Bioscience-Elite. 2010. 2(2); 547-558.