Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Gustavo H. Vieira, Jayson D. Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F. Gamba, Daniel R. Carvalho, Andréa De Rezende Duarte, Suely R. Santos, Deise H. De Souza, Barbara R. Dupont, Katherina Walz, Danilo Moretti-Ferreira, Anand K. Srivastava

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS.

Original languageEnglish (US)
Pages (from-to)148-154
Number of pages7
JournalEuropean Journal of Human Genetics
Volume20
Issue number2
DOIs
StatePublished - Feb 2012

Keywords

  • 17p11.2
  • arrayCGH
  • deletion
  • mutation
  • RAI1
  • Smith-Magenis syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome'. Together they form a unique fingerprint.

  • Cite this

    Vieira, G. H., Rodriguez, J. D., Carmona-Mora, P., Cao, L., Gamba, B. F., Carvalho, D. R., De Rezende Duarte, A., Santos, S. R., De Souza, D. H., Dupont, B. R., Walz, K., Moretti-Ferreira, D., & Srivastava, A. K. (2012). Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. European Journal of Human Genetics, 20(2), 148-154. https://doi.org/10.1038/ejhg.2011.167