Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: ADSSL1

Green List (high evidence)

Over 60 families reported mainly in Japan and Korea.
PMID: 26506222 - 4 individuals with adolescent-onset distal myopathy in 2 unrelated Korean families cosegregating compound heterozygous variants (p.D304N and p.I350fs). In vitro assays demonstrated reduced enzyme activity and cell viability and supporting zebrafish model.
PMID: 28268051 - 4 unrelated Korean distal myopathy cases with biallelic variants
PMID: 34635388 - Turkish individual with distal myopathy and homozygous variant (c.989G>A, p.Ala300Thr) and Indian individual with proximal muscle weakness and homozygous variant (c.910G>A, p.Asp304Asn)
PMID: 32646962 - 63 patients from 59 Japanese families with biallelic variants of ADSSL1. Most displayed variable muscle symptoms including in the proximal and/or distal leg muscles. Nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathy
Sources: Literature

Created: 13 Apr 2023, 7:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834

Publications

• 26506222
• 28268051
• 34635388
• 32646962

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

Green List (high evidence)

PMID: 28268051 - Four compound heterozygous unrelated Korean patients with adolescence-onset muscle weakness and distal myopathy. Recurring variants (c.910G>A, c.1048delA) are common among Korean patients.
Review of previous reports describes all patients (9) with onset in early childhood, earliest reported at 5 years old.

PMID: 32331917 - Two homozygous families (Turkish, Indian) with missense variants. One patient was diagnosed at 18 years old, the other at 10 years old.
Patients describes with progressive muscle weakness, muscle atrophy and early contractures.

Summary: Childhood onset commonly reported - GREEN. Potential AMBER/RED in GEL as no congenital reports found.
Sources: Expert list

Created: 10 Jun 2020, 3:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5 617030

Publications

• PMID: 28268051
• 32331917

Green List (high evidence)

Two unrelated families and animal model.

Created: 16 Dec 2019, 11:20 p.m. | Last Modified: 16 Dec 2019, 11:20 p.m.

Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5, MIM#617030

Publications

• 26506222