A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Kosaki overgrowth syndrome
PDGFRB
Penttinen syndrome
idiopathic basal ganglia calcification
infantile myofibromatosis
postzygotic variant
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:
07 2019
07 2019
Historique:
received:
20
11
2018
revised:
20
03
2019
accepted:
22
03
2019
pubmed:
21
4
2019
medline:
9
7
2020
entrez:
21
4
2019
Statut:
ppublish
Résumé
The spectrum of clinical consequences of variants in the Platelet derived growth factor receptor beta (PDGFRB) gene is wide. Missense variants leading to variable loss of signal transduction in vitro have been reported in the idiopathic basal ganglia calcification (IBGC) syndrome Type 4. In contrast, gain-of-function variants have been reported in infantile myofibromatosis, Penttinen syndrome, and Kosaki overgrowth syndrome. Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. This observation expands the phenotype associated with PDGFRB variants and illustrates the wide clinical spectrum linked to dysregulation of PDGFRB.
Identifiants
pubmed: 31004414
doi: 10.1002/ajmg.a.61151
doi:
Substances chimiques
PDGFRB protein, human
EC 2.7.10.1
Receptor, Platelet-Derived Growth Factor beta
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1304-1309Subventions
Organisme : Institut National Du Cancer
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.