Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations

摘要

Dystrophinopathies are the most common genetic neuromuscular disorders during childhood, with an X-linked recessive inheritance pattern. Because of clinical and genetic heterogeneity of dystrophinopathies, genetic testing of dystrophin gene at Xp21.2 is constantly evolving. Multiplex Polymerase Chain Reaction (MPCR) is used in the first line to detect common exon deletions of dystrophin gene (accounting for 65% of mutations), followed by the Multiplex Ligation-dependent Probe Amplification (MLPA) technique to reveal deletions of exons outside the usual hotspot and duplications in male and female carriers. (MLPA adds another 10-15% positive cases to MPCR). Recently, Next Generation Sequencing allows to screen for rare large and point mutations.