Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Histone-lysine N-methyltransferase 2D

The KMT2D gene encodes a histone methyltransferase of histone H3 that is involved in transcription control. Mutations cause autosomal dominant Kabuki syndrome 1.

Genetests:

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

Related Diseases:

Kabuki syndrome 1
KMT2D

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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

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14.

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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15.

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

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16.

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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17.

NCBI article

NCBI 8085 external link
18.

OMIM.ORG article

Omim 602113 external link
19.

Orphanet article

Orphanet ID 239011 external link
20.

Wikipedia article

Wikipedia EN (KMT2D) external link
Update: Aug. 14, 2020
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