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Article

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

European journal of human genetics : EJHG - 1 Dec 2017

Sobreira Nara, Brucato Martha, Zhang Li, Ladd-Acosta Christine, Ongaco Chrissie, Romm Jane, Doheny Kimberly F, Mingroni-Netto Regina C, Bertola Debora, Kim Chong A, Perez Ana Ba, Melaragno Maria I, Valle David, Meloni Vera A, Bjornsson Hans T

Abstract excerpt

Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki syndrome genes. In 2, we identified presumptive loss of function de novo variants in KMT2A (missense and splice...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29255178
DOI: 10.1038/s41431-017-0023-0
PMCID: PMC5865196

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