Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Lucia Grillo, Donatella Greco, Rosa Pettinato, Emanuela Avola, Nabor Potenza, Lucia Castiglia, Angela Spalletta, Silvestra Amata, Daniela Di Benedetto, Daniela Luciano, Corrado Romano, Marco Fichera

Research output: Contribution to journalArticle

Abstract

Interstitial duplications involving chromosome 11q have rarely been reported in the literature and mainly represent large, cytogenetically detectable rearrangements associated with a wide and variable spectrum of neurodevelopmental disorders. We report on a patient affected by intellectual disability, craniosynostosis, and microcephaly. Array-CGH analysis identified a de novo 290. kb interstitial duplication of chromosome 11q13.3 including the FGF3 and FGF4 genes. Clinical comparison of our patient with those previously reported with overlapping 11q duplications allows us to define the minimal duplicated region associated with craniosynostosis and strongly supports the hypothesis that the constitutional increased dosage of the FGF3 and FGF4 genes is a risk factor for craniosynostosis in humans.

Original languageEnglish
Pages (from-to)435-439
Number of pages5
JournalGene
Volume534
Issue number2
DOIs
Publication statusPublished - Jan 25 2014

Keywords

  • 11q13.3 microduplication
  • Array-CGH
  • Intellectual disability
  • Microcephaly
  • MLPA

ASJC Scopus subject areas

  • Genetics

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