Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Kabuki syndrome 1
KMT2D

References:

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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Update: Sept. 26, 2018