Angioid Streaks in Pseudoxanthoma Elasticum: Role of the p.R1268Q Mutation in the ABCC6 Gene
نویسندگان
چکیده
منابع مشابه
ABCC6 Mutation in Patients with Angioid Streaks
Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch's membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The locus of PXE has been reported to exist in chromosome 16p13.1, and the ABCC6 gene in this locus has been identified as the causal gene of PXE. In this study we investigated the association of the ABCC...
متن کاملAngioid Streaks in Psuedoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a hereditary disorder that affects primarily the elastic tissues of skin, eyes and blood vessels. Its estimated prevalence is thought to be 1:25,000 100,000. PXE patients also carry an increased risk for cardiovascular and gastrointestinal diseases. Early diagnosis can play a crucial role in preventing early loss of vision and systemic complications in these pa...
متن کاملAnalysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
PURPOSE To characterize the ABCC6 R1141X nonsense mutation, which is implicated in more than 25% of a cohort of patients from The Netherlands with pseudoxanthoma elasticum (PXE). METHODS A combination of single-strand conformational polymorphism (SSCP), PCR, sequencing, and Southern blot analysis was used to identify mutations in the ABCC6 gene in 62 patients. Haplotypes of 16 patients with t...
متن کاملNovel ABCC6 mutations in pseudoxanthoma elasticum.
Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants. The mutation detection rate was about 77%. We fou...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2011
ISSN: 0022-202X
DOI: 10.1038/jid.2010.384