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Article

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.

Journal of the peripheral nervous system : JPNS - 1 Jun 2022

Grosz Bianca R, Stevanovski Igor, Negri Sara, Ellis Melina, Barnes Stephanie, Reddel Stephen, Vucic Steve, Nicholson Garth A, Cortese Andrea, Kumar Kishore R, Deveson Ira W, Kennerson Marina L

Abstract excerpt

Biallelic mutations in sorbitol dehydrogenase (SORD) have been recently identified as a common cause of recessive axonal Charcot-Marie-Tooth neuropathy (CMT2). We aimed to assess a novel long-read sequencing approach to overcome current limitations in SORD neuropathy diagnostics due to the SORD2P pseudogene and the phasing of biallelic mutations in recessive disease. We conducted a screen of our Australian whole...

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PMID: 35224818
DOI: 10.1111/jns.12485

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Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.PMID 35224818Read ↗

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