A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Abstract

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved.

Links

PhilArchive



    Upload a copy of this work     Papers currently archived: 90,616

External links

Setup an account with your affiliations in order to access resources via your University's proxy server

Through your library

  • Only published works are available at libraries.

Similar books and articles

A developmental model of number representation.Karin Kucian & Liane Kaufmann - 2009 - Behavioral and Brain Sciences 32 (3-4):340-341.
Development of phenomenological consciousness in early childhood.Preben Bertelsen - 1999 - Journal of Theoretical and Philosophical Psychology 19 (2):195-216.
Recurrent Fuzzy-Neural MIMO Channel Modeling.Abhijit Mitra & Kandarpa Kumar Sarma - 2012 - Journal of Intelligent Systems 21 (2):121-142.
Catatonia is the rosetta stone of psychosis.T. Carroll Brendan & D. Carroll Tressa - 2005 - Behavioral and Brain Sciences 28 (6):759-760.

Analytics

Added to PP
2017-05-17

Downloads
7 (#1,201,127)

6 months
7 (#175,814)

Historical graph of downloads
How can I increase my downloads?

Author Profiles

Citations of this work

No citations found.

Add more citations

References found in this work

No references found.

Add more references