Pseudodominant Inheritance of Biallelic <scp> <i>RFC1</i> </scp> Expansions—Revisiting the 3p22‐p24 <scp>HSN1B</scp> Locus
Affected individuals across consecutive generations in HSN32 resulted in the erroneous mapping of an "autosomal dominant" HSN1B chr3p22-p24 locus. The HSN1B locus should therefore no longer be considered a valid locus for HSN.
Authors
- Carolin K. Scriba (ORCID: https://orcid.org/0000-0001-9874-3846)
- Andrea Cortese (ORCID: https://orcid.org/0000-0002-2208-5311)
- Igor Stevanovski (ORCID: https://orcid.org/0000-0002-7713-1979)
- Marina Kennerson (ORCID: https://orcid.org/0000-0003-3332-5074)
- Mary M. Reilly (ORCID: https://orcid.org/0000-0003-0686-905X)
- Nigel G. Laing (ORCID: https://orcid.org/0000-0001-5111-3732)
- Sanjog R. Chintalaphani (ORCID: https://orcid.org/0000-0002-8106-5011)
- S. Trivedi
- Bianca R. Grosz (ORCID: https://orcid.org/0000-0002-6926-0551)
- Danqing Zhu (ORCID: https://orcid.org/0000-0003-3916-3192)
- Steve Vucic (ORCID: https://orcid.org/0000-0002-8323-873X)
- Melina Ellis (ORCID: https://orcid.org/0000-0002-8542-048X)
- Garth A. Nicholson (ORCID: https://orcid.org/0000-0001-9694-066X)
- Kishore Raj Kumar (ORCID: https://orcid.org/0000-0003-3482-6962)
- Marion Stoll (ORCID: https://orcid.org/0009-0007-2971-388X)
- Ira W. Deveson (ORCID: https://orcid.org/0000-0003-3861-0472)
- Penelope J. Spring (ORCID: https://orcid.org/0000-0002-8072-7888)
Institutions
- The University of Sydney (AU)
- Garvan Institute of Medical Research (AU)
- Queensland University of Technology (AU)
- Harry Perkins Institute of Medical Research (AU)
- Concord Repatriation General Hospital (AU)
- St Vincent's Clinic (AU)
- Murdoch Children's Research Institute (AU)
- National Hospital for Neurology and Neurosurgery (GB)
- Anzac Research Institute (AU)
- University College London (GB)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1111/jns.70070
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00