Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

Molecular Genetics and Metabolism Reports
Ruqaiah AltassanDaniela Buhas

Abstract

Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, confirming the seventh GPI biogenesis gene linked to HPMRS. Two siblings presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase. We identified two heterozygous mutations in the PIGL gene (P.Trp20Ter and p.Arg88Cys). PIGL mutations have been linked to another distinctive neuroectodermal disorder: CHIME syndrome. The clinical picture of our patients expands the spectrum of PIGL-related phenotypes.

Citations

Jul 16, 2020·Birth Defects Research·Kurt ReynoldsChengji J Zhou
May 30, 2020·Orphanet Journal of Rare Diseases·Tenghui WuJing Peng

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Methods Mentioned

BETA
X-ray
Exome Sequencing

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