CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

ABSTRACT:

Purpose

To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing.

Design

Retrospective case-control study.

Methods

Fifty-seven primary congenital glaucoma patients (47 families), 71 unaffected family members of the primary congenital glaucoma probands, and 101 healthy unrelated individuals were recruited from a single institution. Sanger sequencing of the primary congenital glaucoma gene, CYP1B1, was performed on 47 proband deoxyribonucleic acid samples. Simultaneously, whole exome sequencing was conducted on 3 families, each including more than 1 affected individual. Concurrently, 33 of 47 primary congenital glaucoma probands with extended family deoxyrib

SUBMITTER: Lim SH 

PROVIDER: S-EPMC3736560 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature