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Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
N K Ragge1, C Hartley, A M Dearlove
1Department of Ophthalmology, St Thomas' Hospital, London and Moorfields Eye Hospital, London, UK. Nicky.Ragge@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 theta=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.
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