Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool
Investigation of methylation status can be a powerful tool to determine pathogenicity when facing KMT2B variants of uncertain significance. Methylation results may optimize genetic counseling and positively impact patient care.
Authors
- Yanca Gasparini Oliveira (ORCID: https://orcid.org/0000-0002-7035-7705)
- Lucas Liro Vieira
- Leslie Domenici Kulikowski (ORCID: https://orcid.org/0000-0003-2236-3956)
- Matheus Augusto Araújo Castro (ORCID: https://orcid.org/0000-0003-0335-8799)
- Fernando Kok (ORCID: https://orcid.org/0000-0002-7577-9122)
- Beatriz Martins Wolff (ORCID: https://orcid.org/0000-0002-3290-9652)
- Mariana Ribeiro Costa
- Gleyson Francisco da Silva Carvalho (ORCID: https://orcid.org/0000-0003-1505-7651)
- Claudio Melo de Gusmão
- Rafaela da Silva Mendes (ORCID: https://orcid.org/0000-0002-9607-8245)
- Mayara T. Sakuma
- Bekim Sadikovic
Institutions
- Universidade de São Paulo (BR)
- London Health Sciences Centre (CA)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2024-11-25
- DOI
- https://doi.org/10.1186/s13148-024-01780-1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Conselho Nacional das Fundações Estaduais de Amparo à Pesquisa