Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly

Mei L Mellott; Jeremiah Brown Jr; John H Fingert; Christine M Taylor; Ronald V Keech; Val C Sheffield; Edwin M Stone

doi:10.1001/archopht.117.12.1630

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Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly

Journal article

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Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly

Mei L Mellott, Jeremiah Brown Jr, John H Fingert, Christine M Taylor, Ronald V Keech, Val C Sheffield and Edwin M Stone

Archives of ophthalmology (1960), Vol.117(12), pp.1630-1633

12/1999

DOI: 10.1001/archopht.117.12.1630

PMID: 10604668

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Abstract

To identify a congenital nystagmus locus on the X chromosome and to characterize the phenotype of a 4-generation family affected with congenital nystagmus and color deficiency. Sixty-five patients underwent an eye examination, including evaluation for the presence of nystagmus and color vision abnormalities. Affected patients and obligate carriers of the congenital nystagmus mutation were genotyped with short tandem repeat polymorphisms located on the X chromosome, and these data were subjected to linkage analysis. Fourteen patients were affected with a horizontal, conjugate, congenital nystagmus. All examined patients had a visual acuity of 20/60 or better. There were no associated ocular or systemic findings except that 18 of the family members had deficient red-green color vision, which was classified as deuteranomaly (the most common form of anomalous trichromacy). Five patients exhibited nystagmus and deuteranomaly. Significant linkage was demonstrated between the nystagmus phenotype and 11 markers from Xq. The maximum lod score was 4.84 (theta = 0) and was obtained with marker DXS8041. Analysis of recombinants defined the disease interval to lie between markers ATA59C05 and DXS1192 (a 5.4-centimorgan region). The proximity of this locus to the red-green opsin gene cluster (11 centimorgans more telomeric) explains the frequent coexistence of nystagmus and color vision deficiency in this family. We have identified the genetic locus of the X-linked congenital nystagmus gene in this family. The critical interval in this report is less than half the size of the previously described nystagmus locus. These findings will aid in identifying the gene responsible for this condition.

Electroretinography

Humans

Male

Chromosome Mapping

Nystagmus, Congenital - genetics

Visual Acuity

Color Vision Defects - genetics

Lod Score

Dark Adaptation

Rod Opsins - genetics

DNA - analysis

Pedigree

X Chromosome

Female

Color Perception Tests

Genetic Linkage

Details

Title: Subtitle: Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly
Creators: Mei L Mellott - Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City 52242, USA
Jeremiah Brown Jr
John H Fingert
Christine M Taylor
Ronald V Keech
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.117(12), pp.1630-1633
DOI: 10.1001/archopht.117.12.1630
PMID: 10604668
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: EY10539 / NEI NIH HHS
Language: English
Date published: 12/1999
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980394902771

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