Key result
MLPA detected a complex double-duplication encompassing exons 2 to 7 and exons 50 to 55 of the DMD gene in two affected brothers and their carrier mother.
Case Report (n=3)
Identifies a complex double-duplication pattern in the DMD gene using MLPA in a Spanish family, highlighting the utility of this method for detecting complex genetic variants.
DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-duplication in two DMD-affected brothers and in their carrier mother, which consist of two non-contiguous duplications encompassing exons 2 to 7 and exons 50 to 55. Different models are presented to explain formation of this genetic variant.
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Fenollar‐Cortés et al. (2008) conducted a case report in Duchenne Muscular Dystrophy (DMD) (n=3). Multiplex Ligation-dependent Probe Amplification (MLPA) was evaluated on Detection of DMD gene duplications. MLPA detected a complex double-duplication encompassing exons 2 to 7 and exons 50 to 55 of the DMD gene in two affected brothers and their carrier mother.
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