AI Article Synopsis
- - Mabry syndrome is a genetic condition linked to a deficiency in glycophosphatidylinositol (GPI), resulting in symptoms like intellectual disability, unique facial features, severe seizures, and elevated enzyme levels (hyperphosphatasia).
- - This study identifies new genetic variants (bi-allelic PIGO variants) contributing to inherited GPI deficiencies, expanding the understanding of related syndromes.
- - The case examined involved a newborn who suffered from severe seizures along with complex gastrointestinal and urogenital problems, highlighting the syndrome’s variable presentation.
Article 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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| http://dx.doi.org/10.1016/j.ejmg.2019.103802 | DOI Listing |
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