‘Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population’

Our recent work on DMD titled: ‘Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population’ has been published today on Scientific Reports of Nature Portfolio! This is to mention that, it is the total mutational spectrum screening work done in Bangladeshi cohort for the first time. The study was carried out in the department Genetics & Genomic Medicine Centre (GGMC) of NeuroGen Healthcare.

Key facts of the study:

🧬We investigated the rare mutational and phenotypic spectrum of the DMD gene in 36 DMD suspected Bangladeshi participants using an economically affordable diagnostic strategy involving initial screening for exonic deletions in the DMD gene via multiplex PCR, followed by testing PCR negative patients for mutations using whole exome sequencing.

🧬From our exome analysis, we detected two novel pathogenic hemizygous mutations in exons 21 and 42 of the DMD gene, and novel pathogenic recessive and loss of function variants in four additional genes: SGCD, DYSF, COL6A3, and DOK7.

🧬Our phenotypic analysis showed that DMD suspected participants presented diverse phenotypes according to the location of the mutation and which gene was impacted. Our study provides ethnicity specific new insights into both clinical and genetic aspects of DMD.

Full paper link: https://www.nature.com/articles/s41598-023-48982-w#Abs1

#genomics #genetictest

#duchennemusculardystrophy

#myopathy

#precisionmedicine