Distribution of genetic variants and cognitive profile in cases with Becker muscular dystrophy

Objectives: Duchenne muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) are inherited diseases which manifest with progressive muscle weakness and are associated with co-morbid cognitive impairment. The degree of cognition varies among DMD and BMD patients and differs with mutation patterns, which have a variable impact on the cognitive profile. The purpose of the study is to investigate the mutation profile and its distribution pattern in BMD subjects and its effect on the cognitive profile. Materials and Methods: Copy number variations in BMD subjects were assessed using multiplex ligation-dependent probe amplification and intelligence quotient (IQ) of the subjects was assessed using standard test batteries. Results: Frequency of DMD variation was observed in 67% of BMD cases. Among these cases, all variations were found to be deletions and no duplications were detected. In-frame variations were predicted in 79% of BMD cases. The most prevalent mutation was associated with 45–55 exon region. IQ results were found to be comparable to those of healthy controls. Conclusion: Most commonly mutated region was found to be 45–55 exon region in BMD subjects. The Dp140 region was predicted to be in-frame and it could be associated with the cognitive profile of BMD comparable to controls.