A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report

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2024年3月27日

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Hamed Hesami,
Serwa Ghasemi,
Golnaz Houshmand,
Yalda Nilipour,
Mahshid Hesami,
Alireza Biglari,
Shahriar Nafissi,
Majid Maleki,
Samira Kalayinia

摘要

Background

Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic variation in the dysferlin gene (DYSF) has been associated with LGMD.

Methods

We characterized a recessive LGMD in a young adult from consanguineous Irani families using whole-exome sequencing (WES) technology. Sanger sequencing was performed to verify the identified variant. Computational modeling and protein-protein docking were used to investigate the impact of the variant on the structure and function of the DYSF protein.

Results

By WES, we identified a novel homozygous missense variant in DYSF (NM_003494.4: c.5876T > C: p. Leu1959Pro) previously been associated with LGMD phenotypes.

Conclusions

The identification and validation of new pathogenic DYSF variant in the present study further highlight the importance of this gene in LGMD.