ArrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

ABSTRACT:

Purpose

Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding RNAs (ncRNAs).

Methods

arrEYE contains probes for the full genomic region of 106 known iRD genes, including those implicated in retinitis pigmentosa (RP) (the most frequent iRD), cone-rod dystrophies, macular dystrophies, and an additional 60 candidate iRD genes and 196 ncRNAs. Eight CNVs in iRD genes identified by other techniques were used as positive controls. The test cohort consisted of 57 patients with autosomal dominant, X-linked, or simplex RP.

Results

In an RP patient, a novel heterozygous deletion of exons 7 and 8 of the HGSNAT gene was identifi

SUBMITTER: Van Cauwenbergh C 

PROVIDER: S-EPMC5392597 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature