Journal Article


Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

Abstract

Nystagmus (involuntary, rhythmical eye movements) can arise due to sensory eye defects, in association with neurological disorders or as an isolated condition. We identified a family with early onset nystagmus and additional neurological features carrying a partial duplication of FGF14, a gene associated with spinocerebellar ataxia type 27 (SCA27) and episodic ataxia. Detailed eye movement analysis revealed oculomotor anomalies strikingly similar to those reported in a previously described four-generation family with early onset nystagmus and linkage to a region on chromosome 13q31.3-q33.1 (NYS4). Since FGF14 lies within NYS4, we revisited the original pedigree using whole genome sequencing, identifying a 161kb heterozygous deletion disrupting FGF14 and ITGBL1 in the affected individuals, suggesting an FGF14-related condition. Therefore, our study reveals the genetic variant underlying NYS4, expands the spectrum of pathogenic FGF14 variants, and highlights the importance of screening FGF14 in apparently isolated early onset nystagmus.

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Authors

Ceroni, Fabiola
Osborne, Daniel
Clokie, Samuel
Bax, Dorine A.
Cassidy, Emma J.
Dunn, Matt J.
Harris, Christopher M.
Self, Jay E.
Ragge, Nicola K.

Oxford Brookes departments

Department of Biological and Medical Sciences

Dates

Year of publication: 2022
Date of RADAR deposit: 2022-10-05


Creative Commons License This work is licensed under a Creative Commons Attribution 4.0 International License


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