Recurrent microdeletions and microduplications on chromosome 16p11.2 (MIM: 611913 and 614671) confer susceptibility to autism spectrum disorder (ASD) in ∼1% of individuals with
ASD, in addition to other clinical features. To further analyze copy number variants
(CNVs) in this region, we studied 41 individuals with 16p11.2 duplications and 53
individuals with 16p11.2 deletions at Greenwood Genetic Center. They share common
clinical features including: developmental delay, intellectual disability, autism
spectrum disorder, seizures, and some features that are unique to either deletions
or duplications. We summarize unique CNVs in individuals with either deletion (n=41)
or duplication (n=35) of these regions. By overlapping the del/dup regions, we identify
six subtypes of CNVs and classify them by potential relevant breakpoints based on
size and location. Types 1, 2 and 3 are more common with both deletions and duplications
found in these regions, and they overlap with BP1-BP3, BP1-BP2 and BP4-BP5 regions,
respectively, in the literature. Types 4, 5 and 6 are less frequent, locating at 31.5-32.5
Mb, 29.6-47.5 Mb and 28.48-28.49 Mb regions on chromosome 16. Type 5 is found only
in individuals with duplications and type 6 only in individuals with deletions. Type
4 variants are more frequently observed in individuals of African American decent,
yet no clear association could be determined due to small sample size in this study.
Genotype-phenotype correlation analysis was also performed to narrow down the potentially
causative genes for specific clinical features. It is also worth noting that de novo CNVs are observed with much higher frequency in individuals with 16p11.2 deletions
(68.2%, n=22) compared to those with duplications (28.6%, n=14). In conclusion, our
analysis explores 16p11.2 CNVs in more detail for rarely observed regions, and could
broaden the understanding of the clinical significance of genes and non-coding regions
in this chromosomal region.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Cancer GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
Article Info
Identification
Copyright
© 2021 Published by Elsevier Inc.