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J Med Genet 48:290-298 doi:10.1136/jmg.2010.084491
  • Special feature on copy-number variation
  • Original article

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

  1. M J Parker1
  1. 1Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK
  2. 2Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK
  3. 3Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
  4. 4Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  5. 5Clinical Genetics, Weisskopf Child Evaluation Center, University of Louisville, Kentucky, USA
  6. 6Department of Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK
  7. 7Department of Cytogenetics, University Hospitals of Leicester NHS Trust, Leicester, UK
  8. 8Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, UK
  9. 9University of Illinois, Chicago, USA
  10. 10Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, USA
  11. 11Department of Clinical Genetics, Cleveland Clinic, USA
  12. 12Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, USA
  13. 13Department of Obstetrics and Gynaecology, University of Pennsylvania School of Medicine, Philadelphia, USA
  14. 14Signature Genomic Laboratories, Spokane, Washington, USA
  1. Correspondence to Dr Meena Balasubramanian, Sheffield Clinical Genetics Service, Sheffield NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK; meena.balasubramanian{at}nhs.net
  • Received 28 August 2010
  • Revised 7 October 2010
  • Accepted 8 October 2010
  • Published Online First 22 February 2011

Abstract

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties, and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. This article describes seven previously unreported patients with deletions at 2q33.1, all partially overlapping the previously described critical region for the 2q33.1 microdeletion syndrome. The deletions ranged in size from 35 kb to 10.4 Mb, with the smallest deletion entirely within the SATB2 gene. Patients demonstrated significant developmental delay and challenging behaviour, a particular behavioural phenotype that seems to be emerging with more reported patients with this condition. One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. In addition, one other patient has significant orthopaedic problems with ligamentous laxity. Interestingly, this patient has a deletion that lies just distal to SATB2. The orthopaedic problems have not been reported previously and are possibly an additional feature of this syndrome. Overall, this report provides further evidence that the SATB2 gene is the critical gene in this microdeletion syndrome. In addition, because the individuals in this study range in age from 3–19 years, these patients will help define the natural progression of the phenotype in patients with this microdeletion.

Footnotes

  • Funding This research was supported in part by NIHR CLAHRC for South Yorkshire.

  • Competing interests A Theisen and JA Rosenfeld are employees of Signature Genomic Laboratories, a subsidiary of PerkinElmer.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.