Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients

In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and the HGMD databases. Among all mutations, nonsense mutations occurred in 45.7%, frameshift mutations in 32.9%, and splicing mutations in 19.5%. Small mutations were distributed throughout the whole dystrophin gene. Splicing mutations were twice more common in BMD patients than in DMD patients. Eighty-two percent of mothers of the males affected with DMD/BMD were found to be carriers of small mutations.

Automated summary

A study of 164 patients with Duchenne/Becker muscular dystrophy identified 142 different small mutations, with 51 novel mutations not previously listed in major genetic databases. Nonsense mutations were the most common type at 45.7%, followed by frameshift mutations at 32.9% and splicing mutations at 19.5%. Splicing mutations were twice as common in patients with Becker muscular dystrophy compared to those with Duchenne muscular dystrophy, and 82% of affected males' mothers were carriers of small mutations.