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  Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Tuerkmen, S., Gillessen-Kaesbach, G., Meinecke, P., Albrecht, B., Neumann, L. M., Hesse, V., et al. (2003). Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. European Journal of Human Genetics, 11(11), 858-865. doi:10.1038/sj.ejhg.5201050.

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Genre: Journal Article
Alternative Title : Eur. J. Hum. Genet.


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Tuerkmen, Seval1, Author           
Gillessen-Kaesbach, Gabriele, Author
Meinecke, Peter, Author
Albrecht, Beate, Author
Neumann, Luitgard M., Author
Hesse, Volker, Author
Palanduz, Suekrue, Author
Balg, Stefanie, Author
Majewski, Frank, Author
Fuchs, Sigrun, Author
Zschieschang, Petra2, Author
Greiwe, Monika, Author
Mennicke, Kirsteen, Author
Kreuz, Friedmar R., Author
Dehmel, Harald J., Author
Rodeck, Burkhard, Author
Kunze, Juergen, Author
Tinschert, Sigrid3, Author           
Mundlos, Stefan3, Author           
Horn, Denise, Author
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              


Free keywords: NSD1, Sotos syndrome, Weaver syndrome, direct sequencing, FISH
 Abstract: Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been described as the major cause of Japanese patients with the Sotos syndrome, whereas point mutations have been identified in the majority of European Sotos syndrome patients. In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/mental retardation. We were able to identify mutations within the NSD1 gene in 18 patients and the familial case with Sotos syndrome (90%). The mutations (six nonsense, eight frame shifts, three splice site, one missense, one in-frame deletion) are expected to result in an impairment of NSD1 function. The best correlation between clinical assessment and molecular results was obtained for the Sotos facial gestalt in conjunction with overgrowth, macrocephaly, and developmental delay. In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations. We tested for large deletions by FISH analysis but were not able to identify any deletion cases. The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1. Deletions covering the NSD1 locus were not found in the patients analyzed here.


Language(s): eng - English
 Dates: 2003-11
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 175489
ISI: 000186074200007
DOI: 10.1038/sj.ejhg.5201050
 Degree: -



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Title: European Journal of Human Genetics
  Alternative Title : Eur. J. Hum. Genet.
Source Genre: Journal
Publ. Info: -
Pages: - Volume / Issue: 11 (11) Sequence Number: - Start / End Page: 858 - 865 Identifier: ISSN: 1018-4813