RESUMO
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. We report here, molecular analysis results of dystrophin gene during 27 years in a large Moroccan cohort of 356 patients, using the multiplex polymerase chain reaction (MPCR) to screen for hot-spot exon deletions. First applications of whole dystrophin gene sequencing in our lab lead to the identification of six novel mutations.
