Hereditary Spastic Paraplegia - paediatric
Gene: TAF1C
3 unrelated individuals with spasticity and hypotonia as a presenting feature.
PMID: 40371665
3yrM with progressive neurodevelopmental regression born to non consanguineous parents.
He presented with a range of phenotypes:
- generalized tonic–clonic seizures
- some abnormal brain MRI findings however preserved cognitive function
- progressive spasticity, increased muscle tone in all limbs, tremors, chronic constipation, feeding difficulties
- microcephalic, recurrent febrile episodes, splenomegaly and cerebellar atrophy
Homozygous p.Ser589Leu variant was reported (not reported on MANE select)
This variant is present in gnomAD v4.1, rare enough for AR gene (Ser563Leu - MANE select)
NFE PopMax AF = 0.006%, 76 hets globally
His unaffected parents were heterozygous for the variant (carriers).
PMID: 32779182
Two individuals from two consanguineous families presenting with a range of neurodevelopmental features including spasticity and hypotonia
Sources: LiteratureCreated: 3 Jun 2025, 11:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038
Publications
Gene: taf1c has been classified as Green List (High Evidence).
Gene: taf1c has been classified as Green List (High Evidence).
gene: TAF1C was added gene: TAF1C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1C were set to 40371665; 32779182 Phenotypes for gene: TAF1C were set to complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038 Review for gene: TAF1C was set to GREEN