Muscular dystrophy and myopathy_Paediatric

Gene: GOSR2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, with or without seizures, MIM# 620166

Publications

• 29855340
• 33639315

Green List (high evidence)

Comment on list classification: Additional cases reported with muscular dystrophy

Created: 3 Sep 2021, 3:47 a.m. | Last Modified: 3 Sep 2021, 3:47 a.m.

Panel Version: 0.92

5 cases from 4 unrelated families with muscular involvement and the PME phenotype. All cases had a missense/leaky splice variant with a predicted loss of function variant
PMID: 34167170 - a case with early onset myoclonus epilepsy, ataxia, areflexia, and relatively preserved cognition. Also had high CK and myopathy in a muscle biopsy. Biallelic variants (c.204‐7A>G and c.319C>T, p.Arg107*) and a less severe phenotype.
PMID: 33639315 - a case with congenital hypotonia and persistently elevated creatine kinase levels with biallelic variants (c.430G>T, p.(Gly144Trp) and c.82C>T, p.(Gln28*))
PMID: 29855340 - 2 siblings with hypotonia, muscle weakness, low muscle bulk, and elevated creatine kinase levels with biallelic variants (c.430G>T p.(Gly144Trp) and c.2T>G p.M1?)
DOI:https://doi.org/10.1016/j.nmd.2013.06.404 - an infant with mild hypotonia, severe developmental delay, and increased CK with biallelic variants (c.430G>T p.(Gly144Trp) and c.336+1G>A). Also developed other features of the PME phenotype

Created: 3 Sep 2021, 3:46 a.m. | Last Modified: 3 Sep 2021, 3:46 a.m.

Panel Version: 0.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 6 MIM#614018; congenital muscluar dystrophy

Publications

• 34167170
• 33639315
• 33639315
• 29855340
• DOI:https://doi.org/10.1016/j.nmd.2013.06.404

Red List (low evidence)

PMID: 30363482 - 1 chet patient, no mention of myopathy or muscular dystrophy. Patient was biallelic for the recurring missense p.Gly144Trp and an inframe deletion of a single amino acid.

PMID: 29855340 - 1 chet family (2 siblings) with neonatal hypotonia, muscle weaknes and elevated CK levels. One sibling died before genotyping, the other was found to be chet for the recurring missense/start-loss variant. Patient had dystrophic muscle biopsy with hypoglycosylation of α-dystroglycan
Paper reviews other patients and notes muscle histology and EMG were normal, no specific abnormalities reported. Patients were homozygous for the recurring missense.

Summary: single report of a patient with muscular dystrophy but all other patients were biallelic for missense or an inframe deletion - less deleterious.

Created: 24 Jun 2020, 5:48 a.m. | Last Modified: 24 Jun 2020, 5:48 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 6 614018

Publications

• PMID: 30363482
• 29855340