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PMID: 11896389 Published · ppublish English Journal Article

Haploinsufficiency of NSD1 causes Sotos syndrome.

Nature genetics ·Vol. 30 ·No. 4 ·2002-04-00 ·Pages 365-6

Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N

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.

MeSH Terms

Acromegaly/genetics Base Sequence Carrier Proteins/genetics 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 Intracellular Signaling Peptides and Proteins Models, Genetic Molecular Sequence Data Nuclear Proteins/genetics Sequence Homology, Nucleic Acid Syndrome Translocation, Genetic

Chemicals

Carrier Proteins Codon, Nonsense DNA, Complementary Intracellular Signaling Peptides and Proteins Nuclear Proteins Histone Methyltransferases Histone-Lysine N-Methyltransferase NSD1 protein, human

Authors & Affiliations

23 authors, click to expand affiliations / ORCID

Kurotaki Naohiro

Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.

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 Ha Hiro-aki

Kinoshita Akira

Mizuguchi Tsuyoshi

Yoshiura Ki Koh-ichiro

Ohta Tohru

Kishino Tatsuya

Fukushima Yoshimitsu

Niikawa Norio

Matsumoto Naomichi

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng863

Published

2002-04-00

Epub

2002-00-18

Pages

365-6

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

AC027314, AF395588

External Links

PubMed source DOI: 10.1038/ng863 View journal details

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Haploinsufficiency of NSD1 causes Sotos syndrome.

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