Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia,intractable epilepsy,and complex gastrointestinal and urogenital malformations |
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| Affiliation: | 1. Radboud University Medical Center, Department of Pediatrics, Nijmegen, The Netherlands;2. Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands;3. Radboud University Medical Center, Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands |
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| Abstract: | 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. |
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| Keywords: | Mabry syndrome Epilepsy Glycophosphatidylinositol VACTERL Anal atresia Esophageal atresia GPI anchor GPI" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" Glycophosphatidylinositol PIGO" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" Phosphatidylinositol glycan anchor biosynthesis class O VACTERL" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" Vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities |
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