Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

ABSTRACT:

Purpose

To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.

Methods

One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosity mapping was performed in the remaining 108. Known genes associated with autosomal recessive retinal dystrophies located within a homozygous region were screened for mutations. Patients in whom a mutation was detected underwent further ophthalmic examination.

Results

Homozygous sequence variants were identified in eight CRD families, six of which were nonconsanguineous. The varia

SUBMITTER: Littink KW 

PROVIDER: S-EPMC3061516 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature