Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Am J Med Genet A
; 170A(5): 1165-73, 2016 May.
Article
en En
| MEDLINE
| ID: mdl-26887912
ABSTRACT
Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways previously implicated in Autism Spectrum Disorders, including the mTOR signaling and the ubiquitin-proteasome cascades. A careful screening of the 16p13.11 region is warranted in patients with childhood onset psychosis.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Psicóticos
/
Esquizofrenia
/
Trastorno Autístico
/
Cromosomas Humanos Par 16
/
Discapacidades del Desarrollo
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2016
Tipo del documento:
Article