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

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

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 priorit...

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Veröffentlicht in:Clinical genetics 2023-09, Vol.104 (3), p.390-392
Hauptverfasser: Hashim, Mona, Stewart, Helen, Yu, Jing, Banos‐Pinero, Benito, Pagnamenta, Alistair T., Taylor, Jenny C.
Format: Artikel
Sprache:eng
Schlagworte:
Base Sequence
Chromosome Mapping
cryptic
Female
Genomes
genome‐sequencing
Humans
KMT2E
Mutation
Research Letter
Research Letters
structural variant
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Zusammenfassung: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14355