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Bi-allelic missense variants in human GPN2 result in Perrault syndrome

Lookup NU author(s): Dr Langping He, Professor Robert TaylorORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

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Author(s): Smith TB, Faridi R, Demain LAM, Inagaki S, Ishibashi Y, Thomas HB, Belyantseva IA, Rea A, Lai KL, Maqbool A, Rauf B, Usmani MA, Schaffer AA, Morell RJ, Green A, Ghedia S, Wilding M, Hay R, Sokolova Y, Riordan GP, Schrauwen I, Liaqat K, Riazuddin S, Ahmed ZM, Chien WW, He L, McGovern A, Byers H, Beaman GM, Ahmad W, Leal SM, Taylor RW, Riazuddin S, O'Keefe RT, Friedman TB, Newman WG

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2026

Volume: 113

Issue: 7

Pages: 1578-1581

Online publication date: 02/07/2026

Acceptance date: 02/04/2018

Date deposited: 16/07/2026

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2026.05.016

DOI: 10.1016/j.ajhg.2026.05.016

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Funding

Funder referenceFunder name
Action Medical Research (GN2494)
Medical Research Council (MR/W019027/1)
NIHR Manchester Biomedical Research Centre (NIHR203308)
Royal National Institute for the Deaf (S60_Newman, S35)
UK NHS Highly Specialised “Rare Mito chondrial Disorders of Adults and Children” Service
The Lily Foundation and LifeArc
Wellcome Trust Centre for Mitochondrial Research (203105/Z/16/Z)

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