Molecular confirmation of carriers for Lowe syndrome.

Abstract

OBJECTIVE:

To determine the sensitivity and specificity of ocular examination for the carrier state of Lowe syndrome in females known to be either carriers or noncarriers by direct DNA diagnosis.

DESIGN:

Nonrandomized cohort study.

PARTICIPANTS:

Thirty-one females at risk for carrying Lowe syndrome in 3 families.

METHODS:

Slit-lamp biomicroscopy after pupillary dilation was performed by a single observer (RAL) who was masked as to carrier status as determined by allele-specific detection of mutations in genomic DNA.

RESULTS:

Carrier assessment predetermined by slit-lamp biomicroscopic examination yielded only one false-negative in a young girl 5 years of age and no false-positives among 31 female members examined.

CONCLUSIONS:

Slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age.

• Authors: T Lin, R A Lewis, R L Nussbaum
• Journal: Ophthalmology (Ophthalmology) Vol. 106 Issue 1 Pg. 119-22 (Jan 1999) ISSN: 0161-6420 [Print] United States
• PMID: 9917791 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Proteins
• Phosphoric Monoester Hydrolases
• OCRL protein, human

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Cohort Studies
• DNA Mutational Analysis
• Female
• Fundus Oculi
• Genetic Carrier Screening
• Genetic Linkage (genetics)
• Humans
• Male
• Middle Aged
• Mutation, Missense
• Oculocerebrorenal Syndrome (genetics, pathology)
• Pedigree
• Phosphoric Monoester Hydrolases
• Proteins (genetics)
• Sensitivity and Specificity
• X Chromosome (genetics)