An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2 |
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| Authors: | Paul A. van der Zwaag Trijnie Dijkhuizen Klasien B.J. Gerssen-Schoorl Anja W. Colijn Paul M.A. Broens Boudien C.T. Flapper Conny M.A. van Ravenswaaij-Arts |
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| Affiliation: | 1. Centre for Information-Based Medicine, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia;2. School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia;3. Centre for Public Health, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia;4. School of Medicine and Public Health, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia;5. Hunter Family Cancer Service, Hunter New England Area Health, Newcastle, New South Wales, 2305, Australia;6. University of NSW, St Vincent’s Hospital Clinical School, Sydney, New South Wales, 2010, Australia;7. Hereditary Cancer Clinic, St Vincent’s Hospital, The Kinghorn Cancer Centre, Sydney, New South Wales, 2010, Australia;8. CSIRO Food and Nutrition Flagship, North Ryde, New South Wales, 2113, Australia;9. Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, 2305, Australia |
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| Abstract: | Postaxial polydactyly type A2 (PAP-A2; OMIM 602085) is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. Dose dependency has been shown for digital malformations in this region, deletions resulting in oligodactyly and duplications in polydactyly. We aimed to narrow down the critical region for PAP-A2 in order to identify candidate genes.We performed chromosomal analysis, FISH and array-CGH in a patient with an interstitial duplication of chromosome 13q31.3q32.1 and a mild phenotype including postaxial polydactyly. The duplicated region spanned 5.59 Mb (89.67–95.25 Mb) and contained eleven known genes, including GPC5 and GPC6.GPC5 and GPC6 show homology with GPC3 and GPC4, genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which also polydactyly can occur. Mouse studies have shown expression of both GPC5 and GPC6 in developing limbs. Therefore, we propose that GPC5 and GPC6 are the most likely candidate genes for PAP-A2. |
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