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

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• 作者：Manuela Priolo ; Enrico Grosso ; Corrado Mamm¨¬ ; Claudia Labate ; Valeria Giorgia Naretto ; Caterina Vacalebre ; Paola Caridi ; Carmelo Lagan¨¤
• 关键词：NFIX ; Nuclear Factor I-X gene ; MH1 ; MAD homology 1 ; BWS ; Beckwith&ndash ; Wiedemann syndrome ; SS ; Sotos syndrome ; SGBS ; Simpson&ndash ; Golabi&ndash ; Behmel syndrome ; NSD1 ; NUclear receptor-binding Su-var enhancer of zeste ; and trithorax domain protein 1 ; CGH-
• 刊名：Gene
• 出版年：2012
• 出版时间：10 December, 2012
• 年：2012
• 卷：511
• 期：1
• 页码：103-105
• 全文大小：257 K

文摘

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.