Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene

Karen M Joos; Alan E Kimura; Kimberlie Vandenburgh; James A Bartley; Edwin M Stone

doi:10.1001/archopht.1994.01090240080029

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Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene

Journal article

Peer reviewed

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene

Karen M Joos, Alan E Kimura, Kimberlie Vandenburgh, James A Bartley and Edwin M Stone

Archives of ophthalmology (1960), Vol.112(12), pp.1574-1579

12/1994

DOI: 10.1001/archopht.1994.01090240080029

PMID: 7993212

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Abstract

To diagnose the carriers and noncarriers in a family affected with Norrie disease based on molecular analysis. Family members from three generations, including one affected patient, two obligate carriers, one carrier identified with linkage analysis, one noncarrier identified with linkage analysis, and one female family member with indeterminate carrier status, were examined clinically and electrophysiologically. Linkage analysis had previously failed to determine the carrier status of one female family member in the third generation. Blood samples were screened for mutations in the Norrie disease gene with single-strand conformation polymorphism analysis. The mutation was characterized by dideoxy-termination sequencing. Ophthalmoscopy and electroretinographic examination failed to detect the carrier state. The affected individuals and carriers in this family were found to have a transition from thymidine to cytosine in the first nucleotide of codon 39 of the Norrie disease gene, causing a cysteine-to-arginine mutation. Single-strand conformation polymorphism analysis identified a patient of indeterminate status (by linkage) to be a noncarrier of Norrie disease. Ophthalmoscopy and electroretinography could not identify carriers of this Norrie disease mutation. Single-strand conformation polymorphism analysis was more sensitive and specific than linkage analysis in identifying carriers in this family.

Mutation

Electroretinography

Humans

Middle Aged

Retina - physiopathology

Child, Preschool

Male

Genes, Recessive

Blindness - genetics

Polymorphism, Restriction Fragment Length

Retina - abnormalities

X Chromosome

Adult

Female

Heterozygote

Blindness - congenital

Child

Genetic Linkage

Details

Title: Subtitle: Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene
Creators: Karen M Joos - Department of Ophthalmology, University of Iowa, Iowa City
Alan E Kimura
Kimberlie Vandenburgh
James A Bartley
Edwin M Stone
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.112(12), pp.1574-1579
DOI: 10.1001/archopht.1994.01090240080029
PMID: 7993212
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: EY08426 / NEI NIH HHS
Language: English
Date published: 12/1994
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979934302771

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