Abstract:
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.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Ragge NK,Hartley C,Dearlove AM,Walker J,Russell-Eggitt I,Harris CMdoi
10.1136/jmg.40.1.37keywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
37-41issue
1eissn
0022-2593issn
1468-6244journal_volume
40pub_type
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journal_title:Journal of medical genetics
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1136/jmg.12.1.12
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1999-08-01 00:00:00
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