Article
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024
Lord Jenny, Oquendo Carolina J, Wai Htoo A, Holloway John G, Martin-Geary Alexandra, Blakes Alexander J M, Arciero Elena, Domcke Silvia, Childs Anne-Marie, Low Karen, Rankin Julia, Baralle Diana, Martin Hilary C, Whiffin Nicola
Abstract excerpt
PURPOSE: Identifying pathogenic noncoding variants is challenging. A single protein-altering variant is often identified in a recessive gene in individuals with developmental disorders (DD), but the prevalence of pathogenic noncoding "second hits" in trans with these is unknown. METHODS: In 4073 genetically undiagnosed rare-disease trio probands from the 100,000 Genomes project, we identified rare heterozygous...
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