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Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

Developmental medicine and child neurology - 1 Aug 2016

Menezes Manoj P, O'Brien Katherine, Hill Mandy, Webster Richard, Antony Jayne, Ouvrier Robert, Birman Catherine, Gardner-Berry Kirsty

Abstract excerpt

AIM: Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency...

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Identifiers

PMID: 26918385
DOI: 10.1111/dmcn.13084

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