Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

“…Our study indicated that the incidence of large rearrangements of the dystrophin gene is almost 80% in the Korean population with DMD/BMD; 65.4% of our patients carry deletions, and 13.3% have duplications. This result is generally similar to those of previous large studies from China, Japan, and Western countries . The frequency of carrier status in our cohort suggested that more than one‐third (38.7%) of Korean DMD/BMD patients are sporadic cases.…”

“…This result is generally similar to those of previous large studies from China, Japan, and Western countries. [26][27][28][29][30] The frequency of carrier status in our cohort suggested that more than one-third (38.7%) of Korean DMD/BMD patients are sporadic cases. We also detected small sequence variations by extensive Sanger sequencing for >100 probands without deletion/duplication and identified 90 different mutations, including 30 novel variations.…”

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

“…This was particularly demonstrated for neurodevelopmental diseases, in which de novo mutations are responsible for the relatively high prevalence of these disorders in the general population (reviewed in [40]). Furthermore, in the X-linked Duchenne dystrophy, the percentage of de novo mutations in affected males reaches up to 40% [41]. According to the ACMG criteria for the pathogenicity of genetic variants, the occurrence of a de novo mutation with both maternity and paternity confirmed (PS2 criterion) is exactly as strong as well-established in vitro or in vivo functional studies (PS3), and both arguments belong to the class of "strong evidence of pathogenicity" [35].…”

Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants

“…Nonsense mutations (in exons 57, 58, 62 and 66) were identified in four patients (N1-N4) who had been diagnosed in early life and symptoms correlated with severe form of the disease (DMD phenotype). The other patients who are reported to have nonsense mutations, also exhibited severe Duchenne phenotype (Schwartz and Duno 2004;Taylor et al 2007;Flanigan et al 2009;Sedlackova et al 2009;Takeshima et al 2010;Chen et al 2013). Patient N5 was already screened by MLPA method which showed the deletion of exon 44, while single and multiplex PCR revealed that the detected deletion was not genuine.…”