The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
J Autism Dev Disord
; 47(3): 549-562, 2017 Mar.
Article
in En
| MEDLINE
| ID: mdl-27853923
ABSTRACT
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
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Attention Deficit Disorder with Hyperactivity
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Developmental Disabilities
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DNA Copy Number Variations
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Alpha7 Nicotinic Acetylcholine Receptor
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Autism Spectrum Disorder
Type of study:
Guideline
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Risk_factors_studies
Limits:
Child
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Female
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Humans
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Male
Language:
En
Journal:
J Autism Dev Disord
Year:
2017
Document type:
Article
Affiliation country:
Country of publication:
EEUU
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ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
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EUA
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UNITED STATES
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UNITED STATES OF AMERICA
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US
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USA