Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

The NSD1 gene encodes an enzyme that by histon modification is involved in regulation of gene expression. Mutations cause autosomal dominant Sotos syndrome 1 and are observed in acute myeloid leukemia.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Sotos syndrome 1



Kurotaki N et al. (2002) Haploinsufficiency of NSD1 causes Sotos syndrome.

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Tatton-Brown K et al. (2013) The NSD1 and EZH2 overgrowth genes, similarities and differences.

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Saugier-Veber P et al. (2007) Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

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Cecconi M et al. (2005) Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

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Visser R et al. (2005) Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.

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Shaw CJ et al. (2004) Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

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Visser R et al. (2003) Genetics of Sotos syndrome.

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Nagai T et al. (2003) Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

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Kurotaki N et al. (2001) Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.

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Wang X et al. (2001) Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.

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Jaju RJ et al. (2001) A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.

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Jaju RJ et al. (1999) A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG)

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None (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.

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Kanemoto N et al. (2006) Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?

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van Haelst MM et al. (2005) Familial gigantism caused by an NSD1 mutation.

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Tatton-Brown K et al. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

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Melchior L et al. (2005) dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

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Kurotaki N et al. (2005) Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

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Baujat G et al. (2004) Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

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Türkmen S et al. (2003) Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

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Kurotaki N et al. (2003) Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

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Höglund P et al. (2003) Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.

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Douglas J et al. (2003) NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

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Imaizumi K et al. (2002) Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

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Orphanet article

Orphanet ID 123937 external link

NCBI article

NCBI 64324 external link

OMIM.ORG article

Omim 606681 external link

Wikipedia article

Wikipedia EN (NSD1) external link
Update: Aug. 14, 2020
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