Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.

ABSTRACT:

Purpose

To identify the genetic defect in the TACSTD2 gene that causes gelatinous drop-like corneal dystrophy (GDLD) in two unrelated consanguineous Chinese families.

Methods

Genomic DNA was prepared from leukocytes of peripheral venous blood. The coding region of the TACSTD2 gene was evaluated by means of polymerase chain reaction and direct sequencing.

Results

Sequencing of the TACSTD2 gene of the two probands revealed two novel homozygous frameshift mutations: c.84insG and c.480delC. The identified molecular defect cosegregates with the disease among affected members of the families and is not found in 50 unaffected controls.

Conclusions

This study reports two novel mutations in two GDLD families and expands the spectrum of mutations in TACSTD2 gene that may

SUBMITTER: Zhang B 

PROVIDER: S-EPMC2774463 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature