De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.
Chromosomes, Human, Pair 19
Comparative Genomic Hybridization
DNA Copy Number Variations
Facies
Family
Female
Gene Dosage
Gene Duplication
Gene Expression Profiling
Genes, Essential
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Humans
Male
Neurodevelopmental Disorders
/ diagnosis
Pedigree
Phenotype
RNA, Messenger
Siblings
autism
borderline personality disorder
immune dysregulation
intellectual disability, severe
microretrognathia
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
19
08
2019
accepted:
06
04
2020
pubmed:
24
4
2020
medline:
29
5
2021
entrez:
24
4
2020
Statut:
epublish
Résumé
Pleiotropy and variable expressivity have been cited to explain the seemingly distinct neurodevelopmental disorders due to a common genetic etiology within the same family. Here we present a family with a de novo 1-Mb duplication involving 18 genes on Chromosome 19. Within the family there are multiple cases of neurodevelopmental disorders including autism spectrum disorder, attention deficit/hyperactivity disorder, intellectual disability, and psychiatric disease in individuals carrying this copy-number variant (CNV). Quantitative polymerase chain reaction (PCR) confirmed the CNV was de novo in the mother and inherited by both sons. Whole-exome sequencing did not uncover further genetic risk factors segregating within the family. Transcriptome analysis of peripheral blood demonstrated a ∼1.5-fold increase in RNA transcript abundance in 12 of the 15 detected genes within the CNV region for individuals carrying the CNV compared with their noncarrier relatives. Examination of transcript abundance across the rest of the transcriptome identified 407 differentially expressed genes (
Identifiants
pubmed: 32321736
pii: mcs.a004721
doi: 10.1101/mcs.a004721
pmc: PMC7304355
pii:
doi:
Substances chimiques
RNA, Messenger
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020 Sjaarda et al.; Published by Cold Spring Harbor Laboratory Press.
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