Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing

October 2023 in “ Psychiatry research. Case reports ”

Andrea Accogli, Michael Hutchinson, Eric Krochmalnek, Judith St‐Onge, Nassima Boudrahem‐Addour, Jean‐Baptiste Rivière, Ridha Joober, Myriam Srour, Yannis Trakadis

HRAS variant early hair loss RNA splicing cryptic splice site HRAS isoforms IDX exon

Studysummary In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

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