Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

ABSTRACT:

Purpose

CYP1B1 mutations cause autosomal recessive congenital glaucoma. Disease risk assessment for families with CYP1B1 mutations requires knowledge of the population mutation carrier frequency. The purpose of this study is to determine the CYP1B1 mutation carrier frequency in clinically normal individuals residing in the United States. Because CYP1B1 mutations can exhibit variable expressivity, we hypothesize that the mutation carrier frequency is higher than expected.

Methods

Two hundred fifty individuals without glaucoma or a family history of glaucoma were enrolled. CYP1B1 mutations were identified by DNA sequencing, and pathogenicity was estimated by PolyPhen-2 or a previous report of disease causality.

Results

Based on the disease frequency (1 in 10,000) and pr

SUBMITTER: Wiggs JL 

PROVIDER: S-EPMC4311669 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature