Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.
نویسندگان
چکیده
منابع مشابه
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 (ATP-binding cassette subfamily C number 6) are known to cause pseudoxanthoma elasticum (PXE). However, ABCC6 mutations account for a significant subset of GACI cases, and ENPP1 mutations can also be associated with PXE lesions. Based on the c...
متن کاملA single nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE; OMIM#264800) is characterized by progressive, lateonset, ectopic mineralization of elastic fibers, clinically affecting skin, retina, and the cardiovascular system with considerable morbidity and occasional mortality (Neldner, 1988). It is an autosomal recessive disorder with a slight female preponderance and an estimated prevalence of ~1 in 50,000-70,000. The cli...
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...
متن کاملABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones
PURPOSE Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, affecting the retina, the skin, and the cardiovascular system. PXE is caused by mutations in ABCC6. Up to now, the literature reports that there are 180 different ABCC6 mutations in PXE. The purpose of this paper is to report eight novel mutations in ABCC6 and to update the spectrum and frequency of ...
متن کاملMutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by congenital calcification of large- and medium-sized arteries, associated with early myocardial infarction, heart failure, and stroke, and premature death. Most cases of GACI are caused by mutations in the ENPP1 gene. We first studied two siblings with GACI from a non-consanguineous family wi...
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عنوان ژورنال:
- Acta dermato-venereologica
دوره 93 6 شماره
صفحات -
تاریخ انتشار 2013