Novel Biallelic Nonsense Mutation Identified in PIGO Gene causes hyperphosphatasia with impaired intellectual development syndrome type 2

Ahmed Waqas1

1- Department of Zoology, Division of Science and Technology, University of Education, Lahore, Pakistan.

Glycosylphosphatidylinositol is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intellectual disability (ID) to dysmorphic features, epilepsy, and other severe anomalies.Molecular diagnosis was performed using whole exome sequencing (WES) followed by Sanger sequencing.Using WES revealed a novel homozygous nonsense variant (c.250C>T; p.Gln84Ter) in the exon 2 of PIGO gene that might explain the disease phenotype in the patient. This study will help in proper genetic counseling of the family and help in genotype-phenotype correlation in the future.
Keywords: GPI, WES, missense mutation, PIGO, ID, Novel mutation.