NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Fiorella Gurrieri, Maria Luigia Cavaliere, Anita Wischmeijer, Corrado Mammì, Maria Antonietta Pisanti, Giulia Rodella, Carmelo Laganà, Manuela Priolo

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases
Original languageEnglish
Pages (from-to)488-491
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume58
Publication statusPublished - 2015

Keywords

  • DNA-Binding/dimerization domain
  • Overgrowth syndrome

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