title: Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. pawels@bcm.edu.
authors.forename: Patrícia Bs
authors.initials: PB
authors.lastname: Celestino-Soper
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Richard
authors.initials: R
authors.lastname: Schroer
authors.forename: Patricia
authors.initials: P
authors.lastname: Eng
authors.forename: Jayant
authors.initials: J
authors.lastname: Shenai
authors.forename: Malgorzata Mj
authors.initials: MM
authors.lastname: Nowaczyk
authors.forename: Deborah
authors.initials: D
authors.lastname: Terespolsky
authors.forename: Donna
authors.initials: D
authors.lastname: Cushing
authors.forename: Gayle S
authors.initials: GS
authors.lastname: Patel
authors.forename: Ladonna
authors.initials: L
authors.lastname: Immken
authors.forename: Alecia
authors.initials: A
authors.lastname: Willis
authors.forename: Joanna
authors.initials: J
authors.lastname: Wiszniewska
authors.forename: Reuben
authors.initials: R
authors.lastname: Matalon
authors.forename: Jill A
authors.initials: JA
authors.lastname: Rosenfeld
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Sung-Hae L
authors.initials: SH
authors.lastname: Kang
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz