Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Aleksandra Jezela-StanekEwa Pronicka

Abstract

Glycosylphosphatidylinositol (GPI)-anchor deficiencies are a new subclass of congenital disorders of glycosylation. About 26 genes are involved in the GPI-anchor biosynthesis and remodeling pathway, of which mutations in thirteen have been reported to date as causative of a diverse spectrum of intellectual disabilities. Since the clinical phenotype of these disorders varies and the number of described individuals is limited, we present new patients with inherited GPI-anchor deficiency (IGD) caused by mutations in the PGAP2 and PIGN genes. The first girl presented with profound psychomotor retardation, low birth parameters, and chest deformities already existing in neonatal period. The disease course was slowly progressive with severe hypotonia, chronic fever, and respiration insufficiency at the age of 6. The second girl showed profound psychomotor retardation, marked hypotonia, and high birth weight (97 centile). Dysmorphy was mild or absent in both girls. Whole exome sequencing revealed novel variants in the genes PGAP2 (c.2T>G and c.221G>A) and PIGN (c.790G>A and c.932T>G). Impaired GPI binding were was subsequently uncovered, although the hyperactivity of alkaline phosphatase (a GPI-anchored protein) occurred only in first ...Continue Reading

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Citations

Apr 3, 2016·Human Mutation·Aideen M McInerney-LeoEmma L Duncan
Mar 23, 2017·European Journal of Human Genetics : EJHG·Alistair T PagnamentaUsha Kini
Jul 29, 2018·Clinical Genetics·Kara Bellai-DussaultPhilippe M Campeau
Oct 23, 2018·American Journal of Medical Genetics. Part a·Ameera BalobaidMoeenaldeen Al-Sayed
May 16, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hadley Stevens SmithHeidi V Russell
Mar 14, 2018·Human Genome Variation·Tomohiro SakaguchiIvo Barić
Mar 24, 2017·Human Molecular Genetics·Devon L JohnstonePhilippe M Campeau
Jul 20, 2019·International Journal of Molecular Sciences·Sergio LopezManuel Muñiz
May 30, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Valentina De GiorgisAnna Pichiecchio

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