Haploinsufficiency of NSD1 causes Sotos syndrome.
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.
Kurotaki
Naohiro
N
Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.
Imaizumi
Kiyoshi
K
Harada
Naoki
N
Masuno
Mitsuo
M
Kondoh
Tatsuro
T
Nagai
Toshiro
T
Ohashi
Hirofumi
H
Naritomi
Kenji
K
Tsukahara
Masato
M
Makita
Yoshio
Y
Sugimoto
Tateo
T
Sonoda
Tohru
T
Hasegawa
Tomoko
T
Chinen
Yasuaki
Y
Tomita Ha
Hiro-aki
HA
Kinoshita
Akira
A
Mizuguchi
Tsuyoshi
T
Yoshiura Ki
Koh-ichiro
K
Ohta
Tohru
T
Kishino
Tatsuya
T
Fukushima
Yoshimitsu
Y
Niikawa
Norio
N
Matsumoto
Naomichi
N
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
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