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.

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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
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Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22‐p24 HSN1B Locus

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Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22‐p24 HSN1B Locus

Carolin K. Scriba, Andrea Cortese, Igor Stevanovski, Marina Kennerson, Mary M. Reilly, Nigel G. Laing, Sanjog R. Chintalaphani, S. Trivedi, Bianca R. Grosz, Danqing Zhu, Steve Vucic, Melina Ellis, Garth A. Nicholson, Kishore Raj Kumar, Marion Stoll, Ira W. Deveson, Penelope J. Spring
article en

Abstract

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.

Journal of the Peripheral Nervous SystemVol. 30(4)
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)
Openalex Percentile: Top 68%
Hereditary Neurological Disorders
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