Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder.
J Formos Med Assoc
; 115(7): 577-82, 2016 Jul.
Article
en En
| MEDLINE
| ID: mdl-27026301
ABSTRACT
Microdeletion at 22q11.2, a common copy number variation (CNV) noted in neurodevelopmental disorders, may be associated with cognitive impairment. However, cognitive function in individuals with microduplication remains unclear. This work presents the genetic, clinical, and brain structural data of two men out of 335 probands with autistic spectrum disorder (ASD) who had different CNV dosages at 22q11.2, and comparison with their siblings, 55 ASD probands, and 73 controls. Both showed severe autistic symptoms, but the proband with microduplication demonstrated better cognitive functions. Furthermore, different cingulate gyrus volume changes were noted, indicating that the proband with 22q11.2 microduplication had a different pattern of cingulate gyrus structure. Our comprehensive characterization of the behavioral, cognitive, and imaging phenotypes of ASD probands with different CNV dosage at 22q11.2 contribute to how copy number changes at 22q11.2 mediate the phenotypes in ASD, and pave the way for future clinical and functional study on these variants.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Variaciones en el Número de Copia de ADN
/
Síndrome de Deleción 22q11
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Trastorno del Espectro Autista
Límite:
Adolescent
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Child
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Child, preschool
/
Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Formos Med Assoc
Asunto de la revista:
MEDICINA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Taiwán
Pais de publicación:
SG
/
SINGAPORE
/
SINGAPUR
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SINGAPURA