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- Title
Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.
- Authors
Xu, Fei; Dong, Fangtian; Li, Hui; Li, Xin; Jiang, Ruxin; Sui, Ruifang
- Abstract
Background: This study aimed to evaluate the clinical phenotype and investigate the molecular genetic defect in a Chinese family with autosomal dominant cone-rod dystrophy (ADCRD). Methods: Family history was collected and patients underwent regular ophthalmologic examinations. Two affected individuals underwent three-year follow-ups to analyze the course of the disease. Venous blood was collected from family members and genomic DNA was extracted. A whole genome linkage analysis of 11 family members was performed using an Illumina Infinium Human Linkage-12 panel. All exons and exon-intron boundaries of guanylate cyclase 2D gene ( GUCY2D) were sequenced for familial gene mutation. Results: Decreased visual acuity and photophobia usually commenced in early childhood in these patients. The family demonstrated an age-dependent increase in macular abnormalities with progressive development of geographic atrophy. Electrophysiological testing revealed a marked loss of cone function. Initially, a genome-wide linkage analysis mapped the disease to chromosome 17 (1-36 cM), with a maximum LOD score of 1.505. Sequence analysis of the GUCY2D gene in the linkage interval detected a recurrent heterozygous mutation, c.2513G > C (p.R838P). This mutation appeared in all seven patients with ADCRD but did not appear in any of the four unaffected family members. Conclusions: A missense mutation in the GUCY2D gene caused ADCRD in this family. Clinical follow-up of this family with a typical CRD phenotype revealed disease progression during the time period.
- Subjects
DYSTROPHY; RETINAL degeneration; CHINESE people; GUANYLATE cyclase; VISUAL acuity; GENETIC mutation; ELECTROPHYSIOLOGY; DISEASES
- Publication
Documenta Ophthalmologica, 2013, Vol 126, Issue 3, p233
- ISSN
0012-4486
- Publication type
Article
- DOI
10.1007/s10633-013-9383-0