Muscular dystrophy and myopathy_Paediatric
Gene: MYMX
2 additional patients from 2 unrelated families with complex neuromuscular syndrome characterized by generalized hypotonia, congenital myopathy, facial nerve palsy, growth restriction and facial dysmorphism. Additional variable features include hearing loss (confirmed in one patient, suspected in the other), scoliosis, joint contractures, cleft palate, hypoglossia, and cerebellar atrophy and Chiari 1 deformity. WES identified a homozygous truncating variant [c.107T>A, (p.Leu36Ter)] and a homozygous stop-codon loss variant [c.255A>G, (p.Ter85TrpextTer41)] in MYMX. No functional data.Created: 14 Jan 2025, 11:01 p.m. | Last Modified: 14 Jan 2025, 11:01 p.m.
Panel Version: 1.81
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy MONDO:0019952; congenital myopathy with facial palsy, growth restriction, and dysmorphism
Publications
Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype.
Sources: LiteratureCreated: 5 Jun 2023, 4:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome MONDO:0009700
Publications
Gene: mymx has been classified as Green List (High Evidence).
Gene: mymx has been classified as Green List (High Evidence).
Gene: mymx has been classified as Amber List (Moderate Evidence).
Gene: mymx has been classified as Amber List (Moderate Evidence).
gene: MYMX was added gene: MYMX was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMX were set to 35642635 Phenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMX was set to AMBER