A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case |
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Authors: | Manuela Priolo,Enrico Grosso,Corrado Mammì ,Claudia Labate,Valeria Giorgia Naretto,Caterina Vacalebre,Paola Caridi,Carmelo Laganà |
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Affiliation: | 1. Unità Operativa di Genetica medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy;2. SCDU Genetica Medica, Azienda Ospedaliero-Universitaria S. Giovanni Battista di Torino, Italy |
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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. |
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Keywords: | 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-array, Comparative genomic hybridization‐array PCR, Polymerase chain reaction |
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