A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.

ABSTRACT:

Purpose

To describe an unusual ocular phenotype in a Chinese female patient with X-linked Alport syndrome (XLAS), and to characterize the type IV collagen alpha 5 (COL4A5) gene mutation in the patient and her son.

Methods

Detailed ophthalmologic examinations and optical coherence tomography were performed in the patient and her family members. For gene analysis of COL4A5, the entire coding region of COL4A5 mRNA from cultured skin fibroblast was analyzed by using reverse-transcription-polymerase chain reaction (RT-PCR) and direct sequencing, and genomic DNA was analyzed by using PCR and direct sequencing.

Results

The patient presented with progressive myopia at age 14 and bilateral giant macular holes (about 2 disc diameter) at age 28. At age 33 when presented to our h

SUBMITTER: Zhao C 

PROVIDER: S-EPMC3425574 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature