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Nat Genet ; 42(3): 203-9, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20154674

RESUMEN

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 (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). 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.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 16 , Discapacidades del Desarrollo/genética , Modelos Genéticos , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Cromosomas Humanos Par 16/genética , Hibridación Genómica Comparativa/métodos , Familia , Frecuencia de los Genes , Humanos , Lactante , Análisis de Secuencia por Matrices de Oligonucleótidos , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple , Recurrencia , Índice de Severidad de la Enfermedad
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