A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
BMC Musculoskelet Disord
; 25(1): 241, 2024 Mar 27.
Article
in En
| MEDLINE
| ID: mdl-38539162
ABSTRACT
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Muscular Dystrophies, Limb-Girdle
Limits:
Adult
/
Humans
Language:
En
Journal:
BMC Musculoskelet Disord
/
BMC musculoskelet. disord. (Online)
/
BMC musculoskeletal disorders (Online)
Journal subject:
FISIOLOGIA
/
ORTOPEDIA
Year:
2024
Document type:
Article
Affiliation country:
Iran
Country of publication:
United kingdom