SHORT REPORT

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

N K Ragge¹, C Hartley², A M Dearlove², J Walker³, I Russell-Eggitt³, C M Harris⁴

¹ Department of Ophthalmology, St Thomas’ Hospital, London and Moorfields Eye Hospital, London, UK
² Medical Research Council HGMP Resource Centre, Cambridge, UK
³ Department of Ophthalmology, Great Ormond St Hospital for Children, London, UK
⁴ Plymouth Institute of Neuroscience, Plymouth University, Plymouth, UK

Correspondence to:
Correspondence to:
Miss N K Ragge, Department of Ophthalmology, St Thomas’ Hospital, Lambeth Palace Road, London SE1 7EH, UK;
Nicky.Ragge{at}btinternet.com

Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus.

Design: Observational and experimental study.

Methods: We carried out a phenotypic study of a unique four generation family with nystagmus. We performed genetic linkage studies including a genome wide search.

Results: Affected family members developed vestibulocerebellar type nystagmus in the first two years of life. A higher incidence of strabismus was noted in affected members. Haplotype construction and analysis of recombination events linked the disorder to a locus (NYS4) on chromosome 13q31-q33 with a lod score of 6.322 at =0 for D13S159 and narrowed the region to a 13.8 cM region between markers D13S1300 and D13S158.

Conclusions: This study suggests that the early onset acquired nystagmus seen in this family is caused by a single gene defect. Identification of the gene may hold the key to understanding pathways for early eye stabilisation and strabismus.

Keywords: nystagmus; familial; gene; NYS4

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