Adult phenotype in Koolen-de Vries/
epilepsy
genetics
genotype
phenotype
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
received:
03
06
2020
revised:
02
10
2020
accepted:
26
11
2020
pubmed:
29
12
2020
medline:
3
3
2022
entrez:
28
12
2020
Statut:
ppublish
Résumé
Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in A retrospective study on 9 subjects aged 19-45 years and revision of 18 literature patients, with the purpose to get insights into the phenotypic evolution with time, and into the clinical manifestations in adulthood. Seven patients had a 17q21.31 deletion and two a point mutation in Distinctive features in adult KdVS subjects include intellectual disability, overweight/obesity, behaviour abnormalities with preserved social interest, ability in language, slight worsening of the facial phenotype and no seizures.
Sections du résumé
BACKGROUND
Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in
METHODS
A retrospective study on 9 subjects aged 19-45 years and revision of 18 literature patients, with the purpose to get insights into the phenotypic evolution with time, and into the clinical manifestations in adulthood.
RESULTS
Seven patients had a 17q21.31 deletion and two a point mutation in
CONCLUSIONS
Distinctive features in adult KdVS subjects include intellectual disability, overweight/obesity, behaviour abnormalities with preserved social interest, ability in language, slight worsening of the facial phenotype and no seizures.
Identifiants
pubmed: 33361104
pii: jmedgenet-2020-107225
doi: 10.1136/jmedgenet-2020-107225
doi:
Substances chimiques
NSL1 protein, human
0
Nuclear Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
189-195Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.