Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

•Multitude of DMD variants challenges the management and genetic counseling in dystrophinopathy.•Single exon deletion may accommodate pathogenic sequence variant in the probe binding site.•Co-occurrence of two mutations in the same allele may complicate phenotype associations.•Segregation assays may guide the critical evaluation of the variants’ pathogenicity.•Next generation sequencing technology allows the detection of mosaicism of the sequence variant.