Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Sotos syndrome is characterized by prenatal and postnatal overgrowth, characteristic craniofacial features and mental retardation. Haploinsufficiency of NSD1 causes Sotos syndrome. Recently, two microdeletions encompassing Nuclear Factor I-X (NFIX) and a nonsense mutation in NFIX have been found in...

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Veröffentlicht in:	Journal of human genetics 2012-03, Vol.57 (3), p.207-211
Hauptverfasser:	Yoneda, Yuriko, Saitsu, Hirotomo, Touyama, Mayumi, Makita, Yoshio, Miyamoto, Akie, Hamada, Keisuke, Kurotaki, Naohiro, Tomita, Hiroaki, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Ogata, Kazuhiro, Naritomi, Kenji, Matsumoto, Naomichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Base Sequence Child Deoxyribonucleic acid Dimerization DNA Facies Female Gene regulation Genetic screening Haploinsufficiency Humans Intellectual disabilities Male Missense mutation Molecular Sequence Data Mutation Mutation, Missense NFI Transcription Factors - genetics Nonsense mutation Nuclear factor I Protein Multimerization - genetics Sequence Alignment Sotos Syndrome - genetics Transcription Young Adult
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