Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Acyltransferases
/ genetics
Child
Child, Preschool
Developmental Disabilities
/ complications
Epilepsy
/ complications
Female
Flow Cytometry
Glycosylphosphatidylinositols
/ deficiency
Homozygote
Humans
Infant
Intellectual Disability
/ complications
Male
Mutation
/ genetics
Nervous System Malformations
/ complications
Pedigree
Phenotype
Poland
Psychomotor Disorders
/ genetics
Seizures
/ complications
PIGT gene
antiepileptic drugs
developmental encephalopathy with epilepsy
fever-associated epilepsy
glycosylphosphatidylinositol biosynthesis defects
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
18
06
2020
revised:
21
07
2020
accepted:
23
07
2020
pubmed:
30
7
2020
medline:
21
8
2021
entrez:
30
7
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Glycosylphosphatidylinositols
0
Acyltransferases
EC 2.3.-
COOH-terminal signal transamidase
EC 2.3.2.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
468-476Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Knaus A, Pantel JT, Pendziwiat M, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Med. 2018;10(1):3.
Bellai-Dussault K, Nguyen TTM, Baratang NV, Jimenez-Cruz DA, Campeau PM. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. Clin Genet. 2019;95(1):112-121.
Mabry CC, Bautista A, Kirk RF, Dubilier LD, Braunstein H, Koepke JA. Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. J Pediatr. 1970;77:74-85.
Thompson MD, Knaus AA, Barshop BA, et al. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: molecular genetics of the prototypical inherited GPI disorder. Eur J Med Genet. 2020;63(4):103822.
Kvarnung M, Nilsson D, Lindstrand A, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013;50(8):521-528.
Bayat A, Knaus A, Juul AW, et al. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med. 2019;21(10):2216-2223.
Jiao X, Xue J, Gong P, et al. Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia seizures syndrome (MCAHS). Orphanet J Rare Dis. 2020;15(1):78.
Brunet O, Lézine I, Josse D. Brunet-Lézine révisé: échelle de développement psychomoteur de la première enfance: BLR. Psy Ed Appl. 1997.
Kwan P, Arzimanoglou A, Berg AT, et al. Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE commission on therapeutic strategies. Epilepsia. 2010;51(6):1069-1077.
Hong Y, Ohishi K, Kang JY, et al. Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. Mol Biol Cell. 2003;14(5):1780-1789.
Nakashima M, Kashii H, Murakami Y, et al. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics. 2014;15(3):193-200.
Pagnamenta AT, Murakami Y, Taylor JM, et al. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet. 2017;22:1-11.
Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512-521.
Cross JH. Fever and fever-related epilepsies. Epilepsia. 2012;53(4):3-8.
Jian X, Boerwinkle E, Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 2014;42(22):534-544.
Dong C, Wei P, Jian X, et al. Comparison and integration of deleteriousness prediction methods for non-synonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015;24(8):2125-2137.