Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

Baran Bayindir, Elena Piazza, Erika Della Mina, Ivan Limongelli, Francesca Brustia, Roberto Ciccone, Pierangelo Veggiotti, Orsetta Zuffardi, Mohammed Reza Dehghani

Research output: Contribution to journalArticle

Abstract

We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1.

Original languageEnglish
Pages (from-to)551-555
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume56
Issue number10
DOIs
Publication statusPublished - Oct 2013

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Keywords

  • Der(4)t(4;8)(p16.3,p23.3)
  • Dravet syndrome
  • WHS

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Bayindir, B., Piazza, E., Della Mina, E., Limongelli, I., Brustia, F., Ciccone, R., Veggiotti, P., Zuffardi, O., & Dehghani, M. R. (2013). Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene. European Journal of Medical Genetics, 56(10), 551-555. https://doi.org/10.1016/j.ejmg.2013.08.003