Copy number variation in the ATP‐binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

In conclusion, by pyrosequencing and quantitative PCR, we were able to detect known and possibly new deletions in the ABCC6 gene that may have caused the PXE phenotype. Pyrosequencing may be used in PXE patients who have obtained incomplete genotype from conventional techniques. The frequency of ABCC6P2 pseudogene duplication was more common in PXE patients than healthy individuals and may affect the PXE phenotype. In this study, principally by pyrosequencing, we were able to detect known and possibly new deletions in the ABCC6 gene that may have caused pseudoxanthoma elasticum (PXE). Also, duplication of the ABCC6P2 pseudogene was common in PXE patients which may possibly affect the PXE phenotype.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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Abstract Background: Pseudoxanthoma elasticum (PXE) is a heritable recessive disease characterized by calcification and fragmentation of soft connective tissue. Besides progressive loss of vision, alternations of the skin, and early-onset atherosclerosis different reports have suggested a microvascular manifestation of PXE and restrictive lung disease. Aim of this study was to elaborate a specific pattern of capillary alterations in PXE as well as to contemplate a possible connection to restrictive lung disease. Patients and methods: 53 consecutive patients with PXE and 26 controls were studied. All patients unde...
Source: VASA. Zeitschrift fur Gefasskrankheiten. Journal for Vascular Diseases - Category: Surgery Authors: Tags: Vasa Source Type: research
ABSTRACT Neuropsychiatric disorders in multiple sclerosis have been known since the original clinicopathological description by Charcot in the late nineteenth century. Charcot, in the last decades of his life, became involved in the field of neuropsychiatry. This produced a battle between rival schools in the era that still echoes to this day. Charcot ’ s intuition, including the line of thought of Babinski, one of his most famous disciples, was that there was a connection between mood disorders and many of the diseases of the nervous system. Medicine ’ s concern with establishing a relationship between mood di...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Conclusion: Visual impairment and blindness are frequent in PXE, particularly in patients older than 50 years. Although choroidal neovascularization is associated with the majority of vision loss, macular atrophy is also common. The proportion of visual impairment in PXE is comparable with late age-related macular degeneration but manifests earlier in life.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Diana Elizabeth Devassy, Sujata Raj Harshad, Harshad DevarbhaiIndian Journal of Dermatology 2019 64(4):321-323 Wilson's disease is an inherited disorder of copper metabolism that results in excessive accumulation of copper in various organs, with liver being the primary site of involvement. D-penicillamine (DPA) as a chelating agent forms the mainstay of therapy; however, it can cause a myriad of adverse effects on long-term use. The major adverse effects reported with DPA include disorders of collagen synthesis, such as pseudoxanthoma elasticum-like lesions, autoimmune blistering diseases, and urticarial lesions. Her...
Source: Indian Journal of Dermatology - Category: Dermatology Authors: Source Type: research
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research
To the Editor: We thank Dr Omarjee for his thought-provoking  letter.1 The reason that we used magnesium oxide in our studies was because that form of magnesium was indeed the form studied by Kupetsky-Rincon et al to reduce carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum (PXE).2 We are, however, intrigued by Dr Omarjee's points a bout magnesium citrate and agree that clinical trials with alternative forms of magnesium might be worthwhile. There are, however, newer candidates that interfere with calcification that are likely to be studied sooner, and because of PXE's rarity, multiple st...
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Tags: JAAD Online Source Type: research
Pseudoxanthoma elasticum (PXE), a prototype of heritable multi-system ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter, ABCC6. The phenotypic spectrum of PXE varies, and the correlation between genotype and phenotype has not been established. To identify genetic modifiers, we performed quantitative trait locus analysis in inbred mouse strains that carry the same hypomorphic allele in Abcc6 yet with highly variable ectopic mineralization phenotypes of PXE.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research
Authors: Domínguez-Serrano FB, Morillo-Sánchez MJ, Molina-Solana P, Rodríguez-de-la-Rúa-Franch E PMID: 31176496 [PubMed - as supplied by publisher]
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
gy ZZ, Szepessy Z Abstract Angioid streaks are defined as the special morphological alteration of the fundus; the most common clinical manifestations are irregular, reddish brownish stripes around the optic nerve head or on the posterior pole. On the basis of histological examination, the cause of this phenomenon is the breaks and continuity deficiencies in the thin layer of Bruch membrane caused by the degeneration of elastic fibers. The aim of this study is to present the ocular complication of this rare entity through the description of three cases, and to draw attention to systemic diseases in the background. ...
Source: Orvosi Hetilap - Category: General Medicine Authors: Tags: Orv Hetil Source Type: research
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