A significant neurodevelopmental disorder associated with a South Asian founder mutation in the UFMylation adaptor CDK5RAP3 - Takeaways - MDSpire

A significant neurodevelopmental disorder associated with a South Asian founder mutation in the UFMylation adaptor CDK5RAP3

  • By

  • Michaela Yuen

  • Katharine Zhang

  • Rhett G. Marchant

  • Ryosuke Ishimura

  • Mark Graham

  • May Aung-Htut

  • Samantha Bryen

  • Rocio Rius

  • Lee Marshall

  • Nader Aryamanesh

  • Gregory Dziaduch

  • Himanshu Joshi

  • Ben Weisburd

  • Steve D. Wilton

  • Meredith Wilson

  • Russell Gear

  • Lucy Hennington

  • Stephanie Lau

  • Helen Doyle

  • Michael Krivanek

  • Richard J. Leventer

  • Susan M. White

  • Sarah A. Sandaradura

  • Masaaki Komatsu

  • Frances J. Evesson

  • Sandra T. Cooper

  • April 27, 2026

  • 0 min

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  • 1

    CDK5RAP3 is a UFMylation adaptor linked to a lethal neurodevelopmental disorder in individuals from two unrelated South Asian families.

  • 2

    Pathogenic variants in CDK5RAP3 highlight its critical role in neurodevelopment and regulation of cellular processes.

  • 3

    Common clinical features of the disorder include global developmental delay, epileptic encephalopathy, and brain pathology.

  • 4

    The study utilized advanced genomic techniques, including exome sequencing and RNA sequencing, to identify pathogenic variants.

  • 5

    This research underscores the importance of UFMylation in human health and the potential for identifying genetic causes of neurodevelopmental disorders.

Original Source(s)

A significant neurodevelopmental disorder associated with a South Asian founder mutation in the UFMylation adaptor CDK5RAP3

  • by Michaela Yuen, Katharine Zhang, Rhett G. Marchant, Ryosuke Ishimura, Mark Graham, May Aung-Htut, Samantha Bryen, Rocio Rius, Lee Marshall, Nader Aryamanesh, Gregory Dziaduch, Himanshu Joshi, Ben Weisburd, Steve D. Wilton, Meredith Wilson, Russell Gear, Lucy Hennington, Stephanie Lau, Helen Doyle, Michael Krivanek, Richard J. Leventer, Susan M. White, Sarah A. Sandaradura, Masaaki Komatsu, Frances J. Evesson, Sandra T. Cooper

  • April 27, 2026

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