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

Mona Hashim,Helen Stewart,Jing Yu,Benito T. Banos-Pinero, Jenny C. Genomics England Res Consortium,Alistair Pagnamenta,Jenny Taylor

CLINICAL GENETICS（2023）

引用 0|浏览3

暂无评分

摘要

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.

查看译文

关键词

cryptic, genome-sequencing, KMT2E, structural variant

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要