A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case

作者：Priolo Manuela^*; Grosso Enrico; Mammi Corrado; Labate Claudia; Naretto Valeria Giorgia; Vacalebre Caterina; Caridi Paola; Lagana Carmelo

来源：Gene, 2012, 511(1): 103-105.

DOI：10.1016/j.gene.2012.08.040

• DNA-binding/dimerization domain
• NFIX
• MH1 domain
• Deletion
• Sotos-like overgrowth syndrome

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.

• 出版日期2012-12-10