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
en 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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Distrofia Muscular de Cinturas
Límite:
Adult
/
Humans
Idioma:
En
Revista:
BMC Musculoskelet Disord
Asunto de la revista:
FISIOLOGIA
/
ORTOPEDIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Irán