A novel splicing mutation identified in a DMD patient: a case report

Area of Science:

• Genetics
• Molecular Biology

Background:

• Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder caused by mutations in the DMD gene, leading to progressive muscle weakness.
• Identifying novel mutations is crucial for understanding disease mechanisms and developing diagnostic tools.

Observation:

• Whole-exome sequencing (WES) was performed on a 4-year-old Chinese boy diagnosed with DMD.
• A novel hemizygous mutation (c.5912_5922+19delinsATGTATG) in the DMD gene was identified, inherited from the mother.

Findings:

• The novel mutation was confirmed to cause aberrant splicing of the DMD gene, as demonstrated by a minigene splicing assay.
• This aberrant splicing resulted in the impairment of the dystrophin protein, the underlying cause of DMD in this patient.

Implications:

• This discovery expands the known spectrum of DMD-causing mutations.
• The findings provide valuable information for precise genetic diagnosis of DMD and support preimplantation genetic diagnosis for affected families.