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

Patrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S. Patel, Ladonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Pawel Stankiewicz

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

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.

Original languageEnglish (US)
Article number17
JournalMolecular Cytogenetics
Volume5
Issue number1
DOIs
StatePublished - 2012

Keywords

  • 6p deletions
  • Array comparative genomic hybridization
  • Copy-number variants

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

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