Open AccessMatrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing
Author(s) -
Shastry Arun,
Aravind Sankaramoorthy,
Sunil Meeta,
Ramesh Keerthi,
Ashley Berty,
T. Nithyanandan,
Ramprasad Vedam L.,
Gupta Ravi,
Seshagiri Somasekar,
gthomba Upendra,
Phalke Sameer
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1633
Subject(s) - duchenne muscular dystrophy , genetics , dystrophin , gene , muscular dystrophy , exon , genetic testing , bioinformatics , biology , medicine
Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sparse quantities of dystrophin protein. A precise and timely molecular detection of DMD mutations encourages interventions such as carrier genetic counselling and in undertaking therapeutic measures for the DMD patients. Results In this study, we developed a 2.1 Mb custom DMD gene panel that spans the entire DMD gene, including the exons and introns. The panel also includes the probes against 80 additional genes known to be mutated in other muscular dystrophies. This custom DMD gene panel was used to identify single nucleotide variants (SNVs) and large deletions with precise breakpoints in 77 samples that included 24 DMD patients and their matrilineage across four generations. We used this panel to evaluate the inheritance pattern of DMD mutations in maternal subjects representing 24 DMD patients. Conclusion Here we report our observations on the inheritance pattern of DMD gene mutations in matrilineage samples across four generations. Additionally, our data suggest that the DMD gene panel designed by us can be routinely used as a single genetic test to identify all DMD gene variants in DMD patients and the carrier mothers.