Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Histone-Lysin N-Methyltransferase, H3 Lysine-36 und H4 Lysine-20 spezifisch

Das NSD1-Gen kodiert ein Protein, welches durch Methylierung der Histone an der Steuerung der Genexpression beteiligt ist. Mutationen führen zum autosomal dominanten Sotos-Syndrom 1 und werden bei akuter myeloischer Leukämie beobachtet.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Sotos-Syndrom 1
NSD1

Referenzen:

1.

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

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2.

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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3.

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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4.

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

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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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

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11.

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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12.

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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13.

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

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14.

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

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15.

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

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16.

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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17.

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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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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Update: 31. März 2018