Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: CASQ1

Green List (high evidence)

Established association.

p.Asp244Gly is a founder variant

Created: 4 Apr 2022, 12:52 a.m. | Last Modified: 4 Apr 2022, 12:52 a.m.

Panel Version: 0.12498

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates MIM#616231

Publications

• 26136523
• 30258016

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

Comment when marking as ready: Founder variant, but large number of affected individuals reported. Italian, rather than rare, isolated ethnicity.

Created: 29 Jun 2020, 10:42 a.m. | Last Modified: 29 Jun 2020, 10:42 a.m.

Panel Version: 0.30

Green List (high evidence)

PMID: 26136523 - 3 unrelated families (10 patients) with a founder missense (p.Asp244Gly) with muscle weaknesses. All patients reported adult onset. 1 proband reported lower limb hypertrophy with normal EMG results. 6 patients had muscle biopsy, with minimal fibre size variation, and a few central nuclei.

PMID: 30258016 - 12 families (22 patients), or which 21 had the recurring p.Asp244Gly mutation. Patients all had adult onset, elevated CK, with slowly progressive proximal weakness with quadriceps atrophy and scapular winging. Pelvic girdle weakness was reported in 4/22 patients.
Sources: Expert list

Created: 29 Jun 2020, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates 616231

Publications

• PMID: 26136523
• 30258016