Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Adolescent
Adult
Child
Chromatin Assembly and Disassembly
Craniofacial Abnormalities
/ genetics
Exome
/ genetics
Female
Genetic Predisposition to Disease
Histone-Lysine N-Methyltransferase
/ genetics
Humans
Intellectual Disability
/ genetics
Male
Marfan Syndrome
/ genetics
Mental Retardation, X-Linked
/ genetics
Middle Aged
Mutation
/ genetics
NFI Transcription Factors
/ genetics
Neurodevelopmental Disorders
/ genetics
Exome Sequencing
Young Adult
chromatin remodeling
de novo variants
exome sequencing
intellectual deficiency
marfanoid habitus
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
16
07
2019
revised:
22
11
2019
accepted:
21
12
2019
pubmed:
12
4
2020
medline:
22
6
2021
entrez:
12
4
2020
Statut:
ppublish
Résumé
Marfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan-Fryns syndrome explain no more than 20% of subjects. To further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic. We identified eight genes with de novo variants (DNVs) in at least two unrelated individuals ( We demonstrated that DNVs were enriched in chromatin remodelling (p=2×10
Identifiants
pubmed: 32277047
pii: jmedgenet-2019-106425
doi: 10.1136/jmedgenet-2019-106425
doi:
Substances chimiques
NFI Transcription Factors
0
NFIX protein, human
0
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
NSD1 protein, human
EC 2.1.1.43
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
466-474Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.