Muscular dystrophy and myopathy_Paediatric

Gene: CASQ1

I don't know

2 cases have been reported with congenital myopathy. Gain of function is expected to be the mechanism of disease.
Sources: Literature

Created: 1 Aug 2024, 2:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
tubular aggregate myopathy MONDO:0008051

Publications

• 38982518

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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 list

Created: 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

• PMID: 30258016
• 25116801
• 26136523

Mode of pathogenicity
Other