Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.

Hashim M., Stewart H., Yu J., Banos-Pinero B., Genomics England Research Consortium None., Pagnamenta AT., Taylor JC.

We describe a patient from the 100,000 Genomes Project with a complex de novo structural variant within KMT2E leading to O'Donnell-Luria-Rodan syndrome. This case expands the mutational spectrum for this syndrome and highlights the importance of revisiting unsolved cases using better SV prioritisation tools and updated gene panels.

DOI

10.1111/cge.14355

Type

Journal article

Journal

Clinical genetics

Publication Date

05/2023

Addresses

Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

Keywords

Genomics England Research Consortium

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