Pathogenic variants in
Attention Deficit Disorder with Hyperactivity
/ complications
Autistic Disorder
/ complications
Child
Child, Preschool
Developmental Disabilities
/ genetics
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Intellectual Disability
/ complications
Language Development Disorders
/ genetics
Male
Motor Skills Disorders
/ genetics
Mutation
/ genetics
Phenotype
RNA-Binding Proteins
/ genetics
Exome Sequencing
ADHD
De novo
autism
autosomal dominant
developmental delay
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
12
09
2019
revised:
23
01
2020
accepted:
24
01
2020
pubmed:
11
3
2020
medline:
9
7
2021
entrez:
11
3
2020
Statut:
ppublish
Résumé
Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. Clinical and molecular characterisation was performed on 17 patients with Clinical findings included DD/ID (17/17) (speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17) of subjects), autism or autistic traits (13/17), attention deficit and hyperactivity disorder (ADHD) (11/17), other behavioural problems (7/17) and musculoskeletal findings (12/17). Other congenital malformations or clinical findings were occasionally documented. The majority of patients exhibited some dysmorphic features but no recognisable gestalt was identified. 17 heterozygous Variants in
Sections du résumé
BACKGROUND
Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes.
METHODS
Clinical and molecular characterisation was performed on 17 patients with
RESULTS
Clinical findings included DD/ID (17/17) (speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17) of subjects), autism or autistic traits (13/17), attention deficit and hyperactivity disorder (ADHD) (11/17), other behavioural problems (7/17) and musculoskeletal findings (12/17). Other congenital malformations or clinical findings were occasionally documented. The majority of patients exhibited some dysmorphic features but no recognisable gestalt was identified. 17 heterozygous
CONCLUSIONS
Variants in
Identifiants
pubmed: 32152250
pii: jmedgenet-2019-106470
doi: 10.1136/jmedgenet-2019-106470
doi:
Substances chimiques
RNA-Binding Proteins
0
TNRC6B protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
717-724Informations 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: KM, AT and RP are employed by GeneDx, and XW, WB, JAR receive salary support from Baylor Genetics Laboratory. Both laboratories offer extensive genetic laboratory testing, including exome sequencing and derive revenue from this activity.