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Title: Refining analyses of copy number variation identifies specific genes associated with developmental delay
Authors: Coe, Bradley P ×
Witherspoon, Kali
Rosenfeld, Jill A
van Bon, Bregje W M
Vulto-van Silfhout, Anneke T
Bosco, Paolo
Friend, Kathryn L
Baker, Carl
Buono, Serafino
Vissers, Lisenka E L M
Schuurs-Hoeijmakers, Janneke H
Hoischen, Alex
Pfundt, Rolph
Krumm, Nik
Carvill, Gemma L
Li, Deana
Amaral, David
Brown, Natasha
Lockhart, Paul J
Scheffer, Ingrid E
Alberti, Antonino
Shaw, Marie
Pettinato, Rosa
Tervo, Raymond
de Leeuw, Nicole
Reijnders, Margot R F
Torchia, Beth S
Peeters, Hilde
Thompson, Elizabeth
O'Roak, Brian J
Fichera, Marco
Hehir-Kwa, Jayne Y
Shendure, Jay
Mefford, Heather C
Haan, Eric
Gécz, Jozef
de Vries, Bert B A
Romano, Corrado
Eichler, Evan E #
Issue Date: Oct-2014
Series Title: Nature genetics vol:46 issue:10 pages:1063-71
Article number: 10.1038/ng.3092
Abstract: Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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