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

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

Hashim, Mona; Stewart, Helen; Yu, Jing; Banos‐Pinero, Benito; Pagnamenta, Alistair T.; Taylor, Jenny C.

Clinical genetics, September 2023, Volume: 104, Issue: 3

Journal Article

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.

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