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

Alexander M Holtz; Amanda W Harrington; Erin R McNamara; Agnieszka Kielian; Janet S Soul; Mayra Martinez-Ojeda; Philip T Levy

doi:10.1016/j.ejmg.2019.103802

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

Eur J Med Genet. 2020 Apr;63(4):103802. doi: 10.1016/j.ejmg.2019.103802. Epub 2019 Nov 5.

Authors

Alexander M Holtz¹, Amanda W Harrington², Erin R McNamara³, Agnieszka Kielian⁴, Janet S Soul⁵, Mayra Martinez-Ojeda¹, Philip T Levy⁶

Affiliations

¹ Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
² Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
³ Department of Urology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
⁴ Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
⁵ Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
⁶ Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: philip.levy@childrens.harvard.edu.

PMID: 31698102
DOI: 10.1016/j.ejmg.2019.103802

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.

Keywords: Anal atresia; Epilepsy; Esophageal atresia; GPI anchor; Glycophosphatidylinositol; Mabry syndrome; PIGO; VACTERL.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Drug Resistant Epilepsy / genetics*
Female
Gastrointestinal Tract / abnormalities
Genetic Variation
Glycosylphosphatidylinositols / deficiency*
Humans
Infant, Newborn
Intellectual Disability / genetics*
Membrane Proteins / genetics*
Phenotype
Phosphorus Metabolism Disorders / genetics*
Urogenital Abnormalities / genetics*

Substances

Glycosylphosphatidylinositols
Membrane Proteins
PIGO protein, human

Supplementary concepts

Hyperphosphatasia with Mental Retardation