Asset Details
Do you wish to reserve the book?
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Do you wish to request the book?
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
2019
Overview
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations. Of these genes, 124 reach exome-wide significance (
P
< 5 × 10
−7
) for DNM. Intersecting these results with copy number variation (CNV) morbidity data shows an enrichment for genomic disorder regions (30/253, likelihood ratio (LR) +1.85,
P
= 0.0017). We identify genes with an excess of missense DNMs overlapping deletion syndromes (for example,
KIF1A
and the 2q37 deletion) as well as duplication syndromes, such as recurrent
MAPK3
missense mutations within the chromosome 16p11.2 duplication, recurrent
CHD4
missense DNMs in the 12p13 duplication region, and recurrent
WDFY4
missense DNMs in the 10q11.23 duplication region. Network analyses of genes showing an excess of DNMs highlights functional networks, including cell-specific enrichments in the D1
+
and D2
+
spiny neurons of the striatum.
Analysis of ~10,000 cases of developmental delay and autism identifies 253 candidate neurodevelopmental disease genes. Network analysis highlights cell-specific enrichments of disease-related genes in the D1
+
and D2
+
spiny neurons of the striatum.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ 45
/ 45/23
/ Analysis
/ Animal Genetics and Genomics
/ Animals
/ Autism
/ Autistic Disorder - genetics
/ Biomedical and Life Sciences
/ Developmental Disabilities - genetics
/ DNA Copy Number Variations - genetics
/ Genes
/ Genomes
/ Humans
/ Intellectual Disability - genetics
/ Intracellular Signaling Peptides and Proteins - genetics
/ Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics
/ Mice
/ Mutation
/ Neurodevelopmental disorders
/ Neurodevelopmental Disorders - genetics
/ Neurons
