TY - JOUR
T1 - Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
AU - Celestino-Soper, Patrícia Bs
AU - Skinner, Cindy
AU - Schroer, Richard
AU - Eng, Patricia
AU - Shenai, Jayant
AU - Nowaczyk, Malgorzata M.J.
AU - Terespolsky, Deborah
AU - Cushing, Donna
AU - Patel, Gayle S.
AU - Immken, Ladonna
AU - Willis, Alecia
AU - Wiszniewska, Joanna
AU - Matalon, Reuben
AU - Rosenfeld, Jill A.
AU - Stevenson, Roger E.
AU - Kang, Sung Hae L.
AU - Cheung, Sau Wai
AU - Beaudet, Arthur L.
AU - Stankiewicz, Pawel
N1 - Funding Information:
We are grateful for the participation of the families and patients in this study. The authors acknowledge the assistance of Dr. John Belmont and Dr. Chad Shaw for help with SNP array analysis interpretation, Dr. Samart Bhatt for technical assistance, Caroline Borgan for critical analysis and editing of the manuscript, and Dr. Huda Zoghbi for helpful discussions. The South Carolina Autism Project was funded by the South Carolina Department of Disabilities and Special Needs and a grant from the National Institute of Mental Health (MH57840 to RES). This study makes use of data generated by the DECIPHER Consortium. A full list of centres who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust.
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - 6p deletions
KW - Array comparative genomic hybridization
KW - Copy-number variants
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U2 - 10.1186/1755-8166-5-17
DO - 10.1186/1755-8166-5-17
M3 - Article
C2 - 22480366
AN - SCOPUS:84859364050
SN - 1755-8166
VL - 5
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
IS - 1
M1 - 17
ER -