Exome & General Genetics

Session # 1, Abstract Program #350

 De novo germline variants in Histone 3 Family 3A (H3F3A) and Histone 3 Family 3B (H3F3B) associated with a severe neurodegenerative disorder and functional effect unique from their somatic mutations 

•Large collaborations/ case series of 23 patients from numerous labs with alterations in H3F3A and H3F3B.
•Patients show a core phenotype of progressive neurologic dysfunction and congenital anomalies, but no malignancies yet.
•Histones from multiple tissues from several H3F3A and H3F3B patients were analyzed along with RNA-seq on patient tissues to show pathogenicity and further characterization.

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