PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Acyltransferases
/ genetics
Brain
/ abnormalities
Child
Child, Preschool
Female
Glycosylphosphatidylinositols
/ biosynthesis
Humans
Infant
Intellectual Disability
/ complications
Male
Membrane Proteins
/ genetics
Muscle Hypotonia
/ complications
Mutation, Missense
/ genetics
Seizures
/ complications
CDG
GPI anchored protein
GPI deficiency
PIGW
Rett syndrome like
hyperphosphatasia
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
26
11
2019
revised:
20
02
2020
accepted:
02
03
2020
pubmed:
22
3
2020
medline:
29
1
2021
entrez:
22
3
2020
Statut:
ppublish
Résumé
Inherited glycosylphosphatidylinositol (GPI) deficiencies are a group of clinically and genetically heterogeneous conditions belonging to the congenital disorders of glycosylation. PIGW is involved in GPI biosynthesis and modification, and biallelic pathogenic variants in this gene cause autosomal recessive GPI biosynthesis defect 11. Only five patients and two fetuses have been reported in the literature thus far. Here we describe a new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections. A detailed and long-term analysis of the electroclinical characteristics and review of the literature suggest that early-onset epileptic seizures are a key manifestation of GPI biosynthesis defect 11. West syndrome and focal-onset epileptic seizures are the most common seizure types, and the fronto-temporal regions may be the most frequently involved areas in these patients.
Identifiants
pubmed: 32198969
doi: 10.1002/ajmg.a.61555
doi:
Substances chimiques
Glycosylphosphatidylinositols
0
Membrane Proteins
0
Acyltransferases
EC 2.3.-
PIGW protein, human
EC 2.3.-.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1477-1482Informations de copyright
© 2020 Wiley Periodicals, Inc.
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