A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing.

ABSTRACT:

Background

Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein.

Methods

We performed exome sequencing and subsequent trio-based analysis in a family with dysferlinopathy.

Results

We report a young patient presenting with hyperCKemia and mild muscle weakness of the lower limbs. Exome sequencing of the proband revealed a homozygous frameshift mutation, NM_001130987.2:c.1471dupA(p.M491Nfs*15), in DYSF. The father was heterozygous for the mutation and the mother did not carry the mutation, as determined by genetic analyses, exome sequencing of parental samples, and a trio-based analysis. Further analysis revealed that the DYSF gene was not deleted

SUBMITTER: Li H 

PROVIDER: S-EPMC9938747 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature