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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Author(s): Celestino-Soper PatrĂ­cia BS | Skinner Cindy | Schroer Richard | Eng Patricia | Shenai Jayant | Nowaczyk Malgorzata MJ | Terespolsky Deborah | Cushing Donna | Patel Gayle S | Immken LaDonna | Willis Alecia | Wiszniewska Joanna | Matalon Reuben | Rosenfeld Jill A | Stevenson Roger E | Kang Sung-Hae L | Cheung Sau | Beaudet Arthur L | Stankiewicz Pawel

Journal: Molecular Cytogenetics
ISSN 1755-8166

Volume: 5;
Issue: 1;
Start page: 17;
Date: 2012;
Original page

Keywords: 6p deletions | Copy-number variants | Array comparative genomic hybridization

Abstract Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an ~ 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay.
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