Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations

• DOI: 10.1016/j.ejmg.2019.103802
• Publication Date: 2019-11-05T01:08:13Z
• Authors: Alexander M. Holtz; Amanda W. Harrington; Erin R. McNamara; Agnieszka Kielian; Janet S. Soul; Mayra Martinez-Ojeda; Philip T. Levy
• Keywords: 0301 basic medicine; Drug Resistant Epilepsy; Glycosylphosphatidylinositols; Infant, Newborn; Genetic Variation; Membrane Proteins; Phosphorus Metabolism Disorders; Gastrointestinal Tract; 03 medical and health sciences; Phenotype; Intellectual Disability; Urogenital Abnormalities; Humans; Abnormalities, Multiple; Female

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.