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Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb

Author:
  • J Schoumans
  • Johan Staaf
  • Göran B Jönsson
  • J Rantala
  • K S Zimmer
  • Åke Borg
  • M Nordenskjold
  • B M Anderlid
Publishing year: 2005
Language: English
Pages: 290-300
Publication/Series: European Journal of Medical Genetics
Volume: 48
Issue: 3
Document type: Journal article
Publisher: Elsevier

Abstract english

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome and it is characterized by an interstitial deletion of chromosome 17p11.2. SMS patients have a distinct phenotype which is believed to be caused by haploinsufficiency of one or more genes in the associated deleted region. Five non-deletion patients with classical phenotypic features of SMS have been reported with mutations in the retinoic acid induced I (RAII) gene, located within the SMS critical interval. Happloinsufficiency of the RAII gene is likely to be the responsible gene for the majority of the SMS features, but other deleted genes in the SMS region may modify the overall phenotype in the patients with 17p11.2 deletions. SMS is usually diagnosed in the clinical genetic setting by FISH analysis using commercially available probes. We detected a submicroscopic deletion in 17p11.2 using array-CGH with a resolution of approximately 1 Mb in a patient with the SMS phenotype, who was not deleted for the commercially available SMS microdeletion FISH probe. Delineation of the deletion was performed using a 32K tiling BAC-array, containing 32,500 BAC clones. The deletion in this patient was size mapped to 2.7 Mb and covered the RAII gene. This case enabled the refinement of the SMS minimum deletion to similar to 650 kb containing eight putative genes and one predicted gene. In addition, it demonstrates the importance to investigate deletion of RAII in SMS patients.

Keywords

  • Cancer and Oncology
  • Smith-Magenis syndrome
  • array-CGH
  • RAI1
  • SMS
  • deletion 17p11.2

Other

Published
  • ISSN: 1769-7212
Åke Borg
Åke Borg
E-mail: ake.borg [at] med.lu.se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2

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Project manager

Familial Breast Cancer

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Professor

Oncology and Pathology, MV

MV 404 C21C2

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