Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2–q33.2

• Published in: Journal of medical genetics Vol. 41; no. 9; pp. 699 - 702
• Main Authors: den Hollander, A I, van Lith-Verhoeven, J J C, Kersten, F F J, Heister, J G A M, de Kovel, C G F, Deutman, A F, Hoyng, C B, Cremers, F P M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.09.2004; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Biological and medical sciences; Chromosomes; Chromosomes, Human, Pair 5 - genetics; Classical genetics, quantitative genetics, hybrids; Female; Fundamental and applied biological sciences. Psychology; Genes; Genes, Dominant - genetics; Genetic Linkage - genetics; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes - genetics; Human; Humans; Letter to JMG; Macular degeneration; Macular Degeneration - genetics; Macular Degeneration - pathology; Male; Mutation; Netherlands; Pedigree; Phenotype; Netherlands; Genetic mapping; Autosomal character; Dominant character; Identification; Dystrophy; Locus; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.019562

The disease is relatively benign, but it can progress with age to chorioretinal atrophy in the parafoveal and peripapillary regions. 2 Butterfly shaped macular dystrophy shares important similarities with age related macular degeneration-the most common cause of blindness in older patients. 3, 4 In both diseases, abnormal deposition of lipofuscin like material at the level of the retinal pigment epithelium is found, which results in loss of the overlying photoreceptors. 2 Butterfly shaped macular dystrophy has an autosomal dominant inheritance pattern. DNA sequence analysis For mutation analysis of the PDE6A gene, we amplified 100 ng of genomic DNA by PCR under the following conditions: initial denaturation for 5 minutes at 95°C, denaturation for 1 minute at 94°C, annealing for 1 minute at 55°C, extension for 1 minute at 72°C, and final extension for 10 minutes at 72°C. Primers to amplify each exon and adjacent intron-exon boundaries of the PDE6A gene have been described. 19 We performed sequencing of PCR products with BigDye Terminator chemistry (Applied Biosystems) on an ABI Prism 3730 or 3100 DNA analyser (Applied Biosystems).