Muscular dystrophy and myopathy_Paediatric
Gene: CASQ1
2 cases have been reported with congenital myopathy. Gain of function is expected to be the mechanism of disease.
Sources: LiteratureCreated: 1 Aug 2024, 2:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
tubular aggregate myopathy MONDO:0008051
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
OMIM notes adult onset
PMID: 30258016 - 22 patients (12 families) where 21/22 carried a founder mutation p.Asp244Gly.
- Patients presented with adult onset proximal weakness, quadricep atrophy and 3/22 with cardiac involvement.
- Some patients were asymptomatic and diagnosed by elevated creatine kinase.
- Youngest age at onset was 12 years old, but only 2/22 were symptomatic <30 years of age.
PMID: 25116801 - 8 patients (4 families) with mild myopathy. All patients were heterozygous for the founder mutation p.Asp244Gly. Patients were aged 23-58 years old at the time of analysis, none mentioned to have childhood onset.
PMID: 26136523 - functionally shows that missense cause both wildtype and mutation protein to aggregate and mislocalise -> evidence of dominant negative mechanism. Lack of NMD predicted variants supports this finding.
Summary: Rare reports of childhood onset, mostly adult
Sources: Expert listCreated: 15 Jun 2020, 4:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates 616231
Publications
Mode of pathogenicity
Other
Gene: casq1 has been classified as Amber List (Moderate Evidence).
Gene: casq1 has been classified as Amber List (Moderate Evidence).
gene: CASQ1 was added gene: CASQ1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASQ1 were set to 38982518 Phenotypes for gene: CASQ1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: CASQ1 was set to Other Review for gene: CASQ1 was set to AMBER gene: CASQ1 was marked as current diagnostic