Muscular dystrophy and myopathy_Paediatric
Gene: FILIP1
Congenital neuromuscular disorder with dysmorphic facies (NMDF) is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth. Affected individuals may show motor delay, speech delay, and impaired intellectual development.
Seven families reported.
Sources: Expert ReviewCreated: 4 Apr 2024, 9:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775
Publications
Gene association with Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related is well established.
Myopathy reported in PMID: 37163662:
- One patient with homozygous p.(Pro1133Leu) has severe muscular hypotonia and muscular weakness, head lag and areflexia. Electron and immunofluorescence microscopy on muscle biopsy revealed core-like zones of myofibrillar disintegration, autophagic vacuoles and accumulation of FLNc. Proteomic studies on the fibroblasts derived from the same patient showed dysregulation of a variety of proteins including FLNc and alpha-B-crystallin.
- Paper reported total of five patients from four unrelated consanguineous families with homozygous FILIP1 variants (two nonsense and two missense). The patients presented with neurodevelopmental phenotypes including intellectual disability as well as facial dysmorphism, myopathy, and brain malformations in two patients.
Sources: LiteratureCreated: 1 Jun 2023, 1:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: filip1 has been classified as Green List (High Evidence).
Gene: filip1 has been classified as Green List (High Evidence).
gene: FILIP1 was added gene: FILIP1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36943452; 37163662 Phenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Review for gene: FILIP1 was set to GREEN