Abstract:
PURPOSE:To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN:Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using markers from Xq26-q27, followed by linkage analysis and sequencing of a candidate gene, solute carrier family 25, member 14 (SLC25A14), in four affected individuals from four families linked to this region. RESULTS:The pattern of inheritance in the family was consistent with X-linkage with incomplete penetrance among carrier females. No affected males had affected sons. Based on the extended pedigree, the estimated penetrance among obligate female carriers (daughters of affected males) was 29% (6 of 21). Visual acuity among 15 affected individuals ranged from 20/20 to 20/70 (median 20/30). Clinical examinations, including electroretinography in two individuals, were otherwise normal except for the presence of nystagmus. Significant LOD scores (theta = 0) were found with markers DXS8057, DXS8044, DXS1047, DXS1062, DXS8072, and DXS8078, placing the gene within a approximately 5 cM interval flanked by DXS9909 and DXS1211 on the long arm of the X chromosome. Sequencing the candidate gene SLC25A14 in four affected individuals from four families linked to this region failed to reveal any mutations. CONCLUSIONS:NYS1 appears to be a common gene for familial congenital idiopathic nystagmus. Linkage analysis of this family further reduces the interval in which NYS1 is located.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Kerrison JB,Giorda R,Lenart TD,Drack AV,Maumenee IHdoi
10.1076/opge.22.4.241.2216subject
Has Abstractpub_date
2001-12-01 00:00:00pages
241-8issue
4eissn
1381-6810issn
1744-5094journal_volume
22pub_type
杂志文章abstract::Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.Purpose: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of...
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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pub_type: 杂志文章
doi:10.1080/13816810.2020.1786842
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819509059970
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810701531260
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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更新日期:2011-11-01 00:00:00
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doi:10.3109/13816810.2014.907920
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
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更新日期:2001-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:1996-09-01 00:00:00
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