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 haploins...

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Published inNature genetics Vol. 30; no. 4; pp. 365 - 366
Main Authors Matsumoto, Naomichi, Kurotaki, Naohiro, Imaizumi, Kiyoshi, Harada, Naoki, Masuno, Mitsuo, Kondoh, Tatsuro, Nagai, Toshiro, Ohashi, Hirofumi, Naritomi, Kenji, Tsukahara, Masato, Makita, Yoshio, Sugimoto, Tateo, Sonoda, Tohru, Hasegawa, Tomoko, Chinen, Yasuaki, Tomita, Hiro-aki, Kinoshita, Akira, Mizuguchi, Tsuyoshi, Yoshiura, Koh-ichiro, Ohta, Tohru, Kishino, Tatsuya, Fukushima, Yoshimitsu, Niikawa, Norio
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group 01.04.2002
Subjects
Acromegaly - genetics
Amino acids
Base Sequence
Binding proteins
Biological and medical sciences
Carrier Proteins - genetics
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 5
Cloning, Molecular
Codon, Nonsense
Complex syndromes
Complications and side effects
Cosmids
Diagnosis
DNA, Complementary - metabolism
Exons
Facial Bones - abnormalities
Frameshift Mutation
Gene Deletion
Gene mutations
Genetic aspects
Gigantism - genetics
Growth Disorders - genetics
Health aspects
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Intracellular Signaling Peptides and Proteins
Medical genetics
Medical sciences
Models, Genetic
Molecular Sequence Data
Mutation
Nervous system diseases
Nuclear Proteins - genetics
Proteins
Risk factors
Sequence Homology, Nucleic Acid
Syndrome
Translocation, Genetic
Japan
Chromosomal aberration
Case study
Human
Abnormal chromosome
Developmental disorder
Mutation
Mental retardation
Chromosome translocation
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Summary: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.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng863