Cerebral Palsy

Gene: ELOVL1

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527

Green List (high evidence)

Same novel heterozygous missense variant reported in 2 families (p.Ser165Phe, described twice in the literature, PMIDs 30487246 and 29496980) de novo in one family, unknown inheritance in a second) with similar phenotype which included icthyotic keratoderma, spasticity, hypomyelination and some dysmorphism. Fatty acid profile was altered in HEK293 cells transfected with mutant construct.

An additional 2 members of a consanguineous family both with cerebral palsy were described with a novel homozygous variant affecting splicing of ELOVL1 and similar clinical phenotype with earlier onset and more severe phenotype (PMID 35379526) . Heterozygous parents are unaffected. Patient skin samples show defects in very long chain fatty acid synthesis.
Sources: Literature

Created: 1 Jul 2022, 7:35 a.m. | Last Modified: 1 Jul 2022, 1 p.m.

Panel Version: 1.23

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
MIM 618527

Publications

• (PMID: 35379526
• 30487246
• 29496980)