Hereditary Spastic Paraplegia - paediatric
Gene: PI4KA
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 84, autosomal recessive, MIM# 619621
Used WES/WGS to identify 10 unrelated patients harbouring biallelic variants in PI4KA, and a spectrum of severe global neurodevelopmental delay, hypomyelination, and developmental brain abnormalities, and pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells.
Sources: LiteratureCreated: 30 Aug 2021, 10:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Publications
Phenotypes for gene: PI4KA were changed from Neurodevelopmental syndrome with hypomyelinating leukodystrophy to Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621
Gene: pi4ka has been classified as Green List (High Evidence).
Gene: pi4ka has been classified as Green List (High Evidence).
gene: PI4KA was added gene: PI4KA was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to PMID: 34415322 Phenotypes for gene: PI4KA were set to Neurodevelopmental syndrome with hypomyelinating leukodystrophy Review for gene: PI4KA was set to GREEN