Document Detail

Haploinsufficiency of NSD1 causes Sotos syndrome.
MedLine Citation:
PMID:  11896389     Owner:  NLM     Status:  MEDLINE    
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.
Naohiro Kurotaki; Kiyoshi Imaizumi; Naoki Harada; Mitsuo Masuno; Tatsuro Kondoh; Toshiro Nagai; Hirofumi Ohashi; Kenji Naritomi; Masato Tsukahara; Yoshio Makita; Tateo Sugimoto; Tohru Sonoda; Tomoko Hasegawa; Yasuaki Chinen; Hiro-aki Tomita Ha; Akira Kinoshita; Tsuyoshi Mizuguchi; Koh-ichiro Yoshiura Ki; Tohru Ohta; Tatsuya Kishino; Yoshimitsu Fukushima; Norio Niikawa; Naomichi Matsumoto
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Publication Detail:
Type:  Journal Article     Date:  2002-03-18
Journal Detail:
Title:  Nature genetics     Volume:  30     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-04-01     Completed Date:  2002-05-02     Revised Date:  2006-04-13    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  365-6     Citation Subset:  IM    
Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AC027314;  AF395588
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MeSH Terms
Acromegaly / genetics*
Base Sequence
Carrier Proteins / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 5
Cloning, Molecular
Codon, Nonsense
DNA, Complementary / metabolism
Facial Bones / abnormalities
Frameshift Mutation
Gene Deletion
Gigantism / genetics
Growth Disorders / genetics
In Situ Hybridization, Fluorescence
Intracellular Signaling Peptides and Proteins*
Models, Genetic
Molecular Sequence Data
Nuclear Proteins / genetics*
Sequence Homology, Nucleic Acid
Translocation, Genetic
Reg. No./Substance:
0/Carrier Proteins; 0/Codon, Nonsense; 0/DNA, Complementary; 0/Intracellular Signaling Peptides and Proteins; 0/NSD1 protein, human; 0/Nuclear Proteins

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