PIGO deficiency: palmoplantar keratoderma and novel mutations.

ABSTRACT:

Background

Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia.

Methods

Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype.

Results

Two novel variants in PIGO were detect

SUBMITTER: Morren MA 

PROVIDER: S-EPMC5445308 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature