PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Adolescent
Child
Child, Preschool
Developmental Disabilities
/ diagnosis
Epilepsy
/ diagnosis
Female
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Humans
Hypotrichosis
/ diagnosis
Magnetic Resonance Imaging
Male
Microcephaly
/ diagnosis
Mutation, Missense
Phenotype
RNA-Binding Proteins
/ genetics
Syndrome
PUM1
hair dysplasia
intellectual disability
whole-exome sequencing
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 2019
06 2019
Historique:
received:
05
12
2018
revised:
31
01
2019
accepted:
05
03
2019
pubmed:
25
3
2019
medline:
11
6
2020
entrez:
24
3
2019
Statut:
ppublish
Résumé
PUM1 has been very recently reported as responsible for a new form of developmental disorder named PADDAS syndrome. We describe here an additional patient with early onset developmental delay, epilepsy, microcephaly, and hair dysplasia, with a de novo heterozygous missense variant of PUM1: c.3439C > T, p.(Arg1147Trp). This variant was absent from databases and predicted deleterious by multiple softwares. The same missense variant has been reported by Gennarino et al., in a girl with much more severe epilepsy. Our report is in favor of a variable expressivity of PADDAS syndrome, and broadens the phenotypic spectrum with the description of hair dysplasia.
Identifiants
pubmed: 30903679
doi: 10.1002/ajmg.a.61127
doi:
Substances chimiques
PUM1 protein, human
0
RNA-Binding Proteins
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1030-1033Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 Wiley Periodicals, Inc.