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

Mona Hashim; Helen Stewart; Jing Yu; Benito Banos-Pinero; Genomics England Research Consortium; Alistair T Pagnamenta; Jenny C Taylor

doi:10.1111/cge.14355

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

Clin Genet. 2023 Sep;104(3):390-392. doi: 10.1111/cge.14355. Epub 2023 May 8.

Authors

Mona Hashim¹, Helen Stewart², Jing Yu¹, Benito Banos-Pinero³; Genomics England Research Consortium; Alistair T Pagnamenta¹, Jenny C Taylor¹

Affiliations

¹ Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
² Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
³ Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Abstract

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.

Keywords: KMT2E; cryptic; genome-sequencing; structural variant.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Chromosome Mapping*
Female
Humans
Mutation

Associated data

figshare/10.6084/m9.figshare.4530893.v7

Grants and funding

WT_/Wellcome Trust/United Kingdom