Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

ABSTRACT:

Purpose

To report the identification of a novel frameshift mutation and copy number variation (CNV) in PIKFYVE in two probands with fleck corneal dystrophy (FCD).

Methods

Slit-lamp examination was performed to identify characteristic features of FCD. After genomic DNA was collected, PCR amplification and automated sequencing of all 41 exons of PIKFYVE was performed. Using genomic DNA, quantitative PCR (qPCR) was performed to detect CNVs within PIKFYVE.

Results

In the first FCD proband, numerous panstromal punctate opacities were observed in each of the proband's corneas, consistent with the diagnosis of FCD. Screening of PIKFYVE demonstrated a novel heterozygous frameshift mutation in exon 19, c.3151dupA, which is predicted to encode for a truncated PIKFYVE protein, p

SUBMITTER: Gee JA 

PROVIDER: S-EPMC4575904 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature