UMMS Affiliation

Eunice Kennedy Shriver Center; Department of Psychiatry

Publication Date


Document Type



Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Developmental Biology | Genetic Phenomena | Genetics and Genomics | Mental Disorders | Musculoskeletal, Neural, and Ocular Physiology | Nervous System Diseases


A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic mechanisms that underlie these associations are not understood. To determine the influence of 16p11.2 genes on development, we investigated the effects of CNV on craniofacial structure in humans and model organisms. We show that deletion and duplication of 16p11.2 have "mirror" effects on specific craniofacial features that are conserved between human and rodent models of the CNV. By testing dosage effects of individual genes on the shape of the mandible in zebrafish, we identify seven genes with significant effects individually and find evidence for others when genes were tested in combination. The craniofacial phenotypes of 16p11.2 CNVs represent a model for studying the effects of genes on development, and our results suggest that the associated facial gestalts are attributable to the combined effects of multiple genes.


16p11.2, genes, craniofacial development

Rights and Permissions

Copyright 2019 The Authors. This is an open access article under the CC BY license (

DOI of Published Version



Cell Rep. 2019 Sep 24;28(13):3320-3328.e4. doi: 10.1016/j.celrep.2019.08.071. Link to article on publisher's site

Journal/Book/Conference Title

Cell reports


Full author list omitted for brevity. For the full list of authors, see article.

Related Resources

Link to Article in PubMed

PubMed ID


Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.