Skeletal dysplasia

Gene: PIK3C2A

Green List (high evidence)

Function: catalyzes the phosphorylation of the lipids that are essential for a variety of cellular processes including cilia formation and vesicle trafficking.

PMID: 31034465 - 3 unrelated families (5 patients) with cataracts, skeletal abnormalities, hearing loss, nephrocalcinosis, visual defects etc. Variants included a nonsense, canonical splice causing a large inframe deletion-insertion and intragenic CNV.
MRIs revealed multiple forntal and periventricular lacunar infarcts, lesions of white matter. No mention of MTS or cerebellar atrophy.
Functional assays on patents fibroblasts showed reduced accumulation of PI(3)P (a downstream target of this gene) at the base of cilia and reduced cilia length.
Sources: Expert list

Created: 19 May 2020, 10:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome 618440

Publications

• PMID: 31034465

Green List (high evidence)

Three unrelated consanguineous families reported.
Sources: Expert list

Created: 21 Jan 2020, 11:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculoskeletodental syndrome, MIM# 618440

Publications

• 31034465

Variants in this GENE are reported as part of current diagnostic practice