Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lysin-spezifische Methyltransferase 2D

Das KMT2D-Gen kodiert eine Methyltransferase für Histon H3, welche an der Transkriptionskontrolle beteiligt ist. Mutationen führen zum autosomal dominanten Kabuki-Syndrom 1.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Kabuki-Syndrom 1
KMT2D

Referenzen:

1.

Prasad R et. al. (1997) Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.

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2.

Miyake N et. al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.

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3.

Micale L et. al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

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4.

Van Laarhoven PM et. al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

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5.

Karlin S et. al. (2002) Amino acid runs in eukaryotic proteomes and disease associations.

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6.

Karlin S et. al. (2002) Associations between human disease genes and overlapping gene groups and multiple amino acid runs.

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7.

Ng SB et. al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

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8.

Parsons DW et. al. (2011) The genetic landscape of the childhood cancer medulloblastoma.

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9.

Li Y et. al. (2011) A mutation screen in patients with Kabuki syndrome.

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10.

Hannibal MC et. al. (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

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11.

Morin RD et. al. (2011) Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

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12.

Banka S et. al. (2012) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

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13.

Lee JE et. al. (2013) H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.

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14.

Zhu J et. al. (2015) Gain-of-function p53 mutants co-opt chromatin pathways to drive cancer growth.

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15.

Li Y et. al. (2016) Structural basis for activity regulation of MLL family methyltransferases.

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16.

Toska E et. al. (2017) PI3K pathway regulates ER-dependent transcription in breast cancer through the epigenetic regulator KMT2D.

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