Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa |
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| Institution: | 1. Department of Internal and Integrative Medicine, Kliniken Essen-Mitte, Faculty of Medicine, University of Duisburg-Essen, Essen, Germany;2. Australian Research Centre in Complementary and Integrative Medicine (ARCCIM), University of Technology Sydney, Sydney, Australia;3. Medical Research Division, Korea Institute of Oriental Medicine, Daejeon, South Korea;1. Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC, USA;2. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;3. Genetics Program, North York General Hospital, Toronto, ON, Canada;4. Department of Obstetrics & Gynecology and Women’s Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA;5. Laboratory Corporation of America, Westborough, MA, USA;6. Department of Obstetrics, Gynecology, and Reproductive Science, University of Pittsburgh Medical Center, Pittsburgh, PA, USA;7. Department of Obstetrics, Gynecology, and Reproductive Science, Mount Sinai School of Medicine, New York, NY, USA;8. Mount Sinai Hospital, New York, NY, USA;9. Department of Genetics, Kaiser Permanente Medical Center, San Francisco, CA, USA;10. Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA;11. Institute of Human Genetics, University of California, San Francisco, CA, USA;12. Department of Pathology and Laboratory Medicine and Surgery, Medical College of Wisconsin, Milwaukee, WI, USA;13. Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA;14. Department of Pathology, University of California, San Francisco, CA, USA;15. Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA;16. American College of Medical Genetics and Genomics, Bethesda, MD, USA |
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| Abstract: | A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling. |
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