A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

ABSTRACT:

Purpose

To identify the molecular defect causing gelatinous drop-like corneal dystrophy (GDLD) in two Chinese brothers and report the morphological evaluation of GDLD by laser scanning confocal microscopy and Fourier-domain optical coherence tomography (OCT).

Methods

Genetic analysis included polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of the coding region of the tumor-associated calcium signal transducer 2 gene (TACSTD2) in DNA from the two brothers and their relatives. Laser scanning confocal microscopy and Fourier-domain OCT were performed on the left cornea of the younger brother.

Results

We report a novel in-frame mutation of TACSTD2, c.526_576del 51, in the two brothers with GDLD. The identified molecular defect cosegregated wi

SUBMITTER: Jing Y 

PROVIDER: S-EPMC2728569 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature