Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: Presymptomatic testing with prognostic implications

British Journal of Dermatology

Volumn 163, Issue 3, 2010, Pages 641-643

  Li, Q ^a   Torok L ^b   Kocsis, L ^b   Uitto, J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b 1st Department of Internal Medicine   (Hungary)

Author keywords

mutation analysis; presymptomatic testing; pseudoxanthoma elasticum

Indexed keywords

PROTEIN; PROTEIN ABCC6; UNCLASSIFIED DRUG;

ADULT; ANGIOID STREAK; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; COUNSELING; DNA ISOLATION; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LETTER; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; PSEUDOXANTHOMA ELASTICUM; SKIN BIOPSY;

ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PSEUDOXANTHOMA ELASTICUM; YOUNG ADULT;

EID: 77955884123     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09856.x     Document Type: Letter

References (10)

1. Li Q, Jiang Q, Pfendner E et al. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol 2009 18:1 11.
2. Pfendner E, Vanakker O, Terry SF et al. Mutation detection in the ABCC6 gene and genotypephenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007 44:621 628.
3. Jiang Q, Endoh M, Dibra F et al. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol 2009 129:348 353.
4. Bergen AA. Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. J Invest Dermatol 2006 126:704 705.
5. Ringpfeil F, McGuigan K, Fuchsel L et al. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol 2006 126:782 786.
6. Kiec-Wilk B, Surdacki A, Dembinska-Kiec A et al. Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum. Int J Cardiol 2007 116:261 262.
7. Germain DP, Perdu J, Remones V, Jeunemaitre X. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. Biochem Biophys Res Commun 2000 274:297 301.
8. Mizutani Y, Nakayama T, Asai S, Shimada H. ABCC6 mutation in patients with angioid streaks. Int J Biomed Sci 2006 2:9 14.
9. Trip MD, Smulders YM, Wegman JJ et al. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 2002 106:773 775.
10. Köblös G, Andrikovics H, Prohászka Z et al. The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Genet Test Mol Biomarkers 2009 14:75 8.