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Nat Genet
; 30(4): 365-6, 2002 Apr.
Article
in English
| MEDLINE
| ID: mdl-11896389
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.
Subject(s)
Acromegaly/genetics , Carrier Proteins/genetics , Intracellular Signaling Peptides and Proteins , Nuclear Proteins/genetics , Base Sequence , Chromosome Mapping , Chromosomes, Human, Pair 5 , Cloning, Molecular , Codon, Nonsense , Cosmids , DNA, Complementary/metabolism , Exons , Facial Bones/abnormalities , Frameshift Mutation , Gene Deletion , Gigantism/genetics , Growth Disorders/genetics , Heterozygote , Histone Methyltransferases , Histone-Lysine N-Methyltransferase , Humans , In Situ Hybridization, Fluorescence , Models, Genetic , Molecular Sequence Data , Sequence Homology, Nucleic Acid , Syndrome , Translocation, Genetic
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