title: Haploinsufficiency of NSD1 causes Sotos syndrome.
abstract: We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.
authors.forename: Naohiro
authors.initials: N
authors.lastname: Kurotaki
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Imaizumi
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
authors.forename: Masato
authors.initials: M
authors.lastname: Tsukahara
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Makita
authors.forename: Tateo
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Tohru
authors.initials: T
authors.lastname: Sonoda
authors.forename: Tomoko
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Chinen
authors.forename: Hiro-aki
authors.initials: HA
authors.lastname: Tomita Ha
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura Ki
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000172:Acromegaly / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003001:Cloning, Molecular; D018389:Codon, Nonsense; D003360:Cosmids; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D005147:Facial Bones / Q000002:abnormalities; D016368:Frameshift Mutation; D017353:Gene Deletion; D005877:Gigantism / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006579:Heterozygote; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; D018076:DNA, Complementary; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human