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Purpose: To report a novel mutation of the ABCC6 gene in a Japanese family tha t had a case of pseudoxanthoma elasticum (PXE) another with PXE and retinitis pi gmentosa. Methods: Ophthalmologic examinations were performed, and the ABCC6 gen e was analysed by direct genomic sequencing. Results: Fundus examinations of the 48-year-old proband disclosed angioid streaks and a peud’orange apparance of the retina of the both eyes, whereas both of his 25-and 20-year-old daughter s had pigmentary degeneration and angioid streaks. In the sibilings, the mixed cone-rod ERG was almost nond etectable, whereas that of the proband was well-preserved. Molecular genetic an alysis revealed that the proband has a homozygous nonsense mutation at the 595 b p in the ABCC6, and the siblings were heterozygous for the same mutation. This m utation was not detected in Japanese subjects in the JSNP database (http:// snp. ims.u-tokyo.ac.jp/). Conculsions: Our results demonstrated an association betwe en a novel mutation in the ABCC6 gene and PXE in a Japanese family.
Methods: Ophthalmologic examinations were performed, and the ABCC6 gen e was analyzed by direct Results: Fundus examinations of the 48-year-old proband disclosed angioid streaks and a peud’orange apparance of the retina of the both eyes, both both of his 25-and 20-year-old daughter s had pigmentary degeneration and In the sibilings, the mixed cone-rod ERG was almost nond etectable, but that of the proband was well-preserved. Molecular genetic an alysis revealed that proband has a homozygous nonsense mutation at the 595 bp in the ABCC6, and This siblings were heterozygous for the same mutation. This m utation was not detected in Japanese subjects in the JSNP database (http: // snp. ims.u-tokyo.ac.jp/). Conculsions: Our results demonstrated an association betwe en a novel mutation in the ABCC6 gene and PXE in a Japanese family.