Muscular dystrophy and myopathy_Paediatric
Gene: CAV3
At least 4 probands/families reported with congenital/paediatric onset myopathy (1 tubular aggregate myopathy and 3 rippling muscle disease). The mechanism for disease is expected to be dominant negative.
Sources: LiteratureCreated: 31 Jul 2024, 11:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Caveolinopathy MONDO:0016146
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
OMIM reports mean age of onset at 22 years (range 5-54).
PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old.
PMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia.
PMID: 27312022 - 8 patients (7 families) with exercise intolerance (7/8), muscle atrophy (2/8) and rhabdomyolysis (2/8). Functional studies show a 50% reduction in protein from patient cells vs controls. Age at onset ranged from 7 years old to 30s, with 3/8 patients presenting <18 years of age.
Summary: while uncommon paediatric onset is reported.
Sources: Expert listCreated: 15 Jun 2020, 5:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072
Publications
Gene: cav3 has been classified as Green List (High Evidence).
Gene: cav3 has been classified as Green List (High Evidence).
gene: CAV3 was added gene: CAV3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAV3 were set to 38982518; 30174172 Phenotypes for gene: CAV3 were set to Caveolinopathy MONDO:0016146 Mode of pathogenicity for gene: CAV3 was set to Other Review for gene: CAV3 was set to GREEN gene: CAV3 was marked as current diagnostic