Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

Autor: Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Szczepanik E; Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland., Mierzewska H; Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Rutkowska K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Śmigiel R; Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland., Stępniak I; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Markiewicz MG; First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland., Boniel S; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2020 Nov; Vol. 98 (5), pp. 468-476.
DOI: 10.1111/cge.13822
Abstrakt: PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever-sensitivity, central hypotonia, psychomotor delay and congenital malformations. The disease is known as multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) or glycosylphosphatidylinositol biosynthesis defect-7. Twenty-eight cases have been reported until today. We present seven novel Polish patients, all harboring 1582G>A variant in a homozygous or compound heterozygous state which seems to cause a milder phenotype of the disease.
(© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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