title: A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.
abstract: The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) family proteins, which are implicated as site-specific DNA-binding proteins and is deleted or mutated in a subset of patients with Sotos-like overgrowth syndrome and in patients with Marshall-Smith syndrome. We evaluated an additional patient with clinical features of Sotos-like syndrome by sequencing analysis of the NFIX gene and identified a 21 nucleotide in frame deletion predicting loss of 7 amino acids in the DNA-binding/dimerization domain of the NFIX protein. The deleted residues are all evolutionally conserved amino acids. The present report further confirms that mutations in DNA-binding/dimerization domain cause haploinsufficiency of the NFIX protein and strongly suggests that in individuals with Sotos-like features unrelated to NSD1 changes genetic testing of NFIX should be considered.
authors.affiliation: Unità Operativa di Genetica medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Priolo
authors.forename: Enrico
authors.initials: E
authors.lastname: Grosso
authors.forename: Corrado
authors.initials: C
authors.lastname: Mammì
authors.forename: Claudia
authors.initials: C
authors.lastname: Labate
authors.forename: Valeria Giorgia
authors.initials: VG
authors.lastname: Naretto
authors.forename: Caterina
authors.initials: C
authors.lastname: Vacalebre
authors.forename: Paola
authors.initials: P
authors.lastname: Caridi
authors.forename: Carmelo
authors.initials: C
authors.lastname: Laganà
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002648:Child; D004247:DNA / Q000235:genetics / Q000378:metabolism; D005091:Exons; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D051839:NFI Transcription Factors / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D055503:Protein Multimerization; D017434:Protein Structure, Tertiary; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D058495:Sotos Syndrome / Q000235:genetics*
chemical_list: D051839:NFI Transcription Factors; D004247:DNA