Congenital muscular dystrophy and congenital myopathy

Gene: DTNA

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.

Panel Version: 0.229

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.

This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in Gene2Phenotype.

Created: 28 Mar 2023, 7:14 p.m. | Last Modified: 28 Mar 2023, 7:16 p.m.

Panel Version: 4.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
muscular dystrophy, MONDO:0020121

Publications

• 36799992

Green List (high evidence)

Nascimento et al described four unrelated families (12 individuals in total) with monoallelic DTNA variants affecting the coiled-coil domain of α-dystrobrevin. the phenotype is characterised by myalgia, exercise intolerance with variable ages of onset, proximal lower limb weakness from first decade, raised CK levels and one report of rhabdomyolysis. Autism spectrum disorder and learning disabilities were also reported. Muscle biopsies showed mixed myopathic and dystrophic findings, with reduced α-dystrobrevin immunoreactivity and variably reduced immunoreactivity of other DGC proteins.
Sources: Literature

Created: 24 Mar 2023, 10:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
muscular dystrophy

Publications

• PMID: 36799992

Mode of pathogenicity
Other