PMID: 15098239

Plomp AS, Hu X, de Jong PT, Bergen AA
Does autosomal dominant pseudoxanthoma elasticum exist?
Am J Med Genet A. 2004 May 1;126A(4):403-12., 2004-05-01 [PubMed]
Sentences
No. Mutations Sentence Comment
130 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:130:295
status: NEW
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Mother35Peaud`orangeIncreasedechogenicityofkidneys andpancreas AppelmansandLebas[1953]a Femaleproband50AS,bleeding,MDCharacteristicofPXEHypertension Son28AS,yellowishretinallesionsManypapuleshighonback Daughter25AS,yellowishretinallesionsNormal Extensive screening of the ABCC6 gene revealed a R1141X mutation in only one allele. Login to comment
133 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:133:25
status: NEW
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However, he did have the R1141X mutation. Login to comment
138 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:138:17
status: NEW
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She also had the R1141X mutation in a single allele. An aunt (II-3) had some yellowish papules on the neck and the cubital fossae. Login to comment
141 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:141:34
status: NEW
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She also was heterozygous for the R1141X mutation. Login to comment
144 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:144:26
status: NEW
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One of the uncles had the R1141X mutation. Login to comment
153 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:153:28
status: NEW
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However, the presence of an R1459C mutation in the ABCC6 gene of a nephew (III-9) suggested that she transmitted this mutation to her affected children (Fig. 4). Login to comment
156 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:156:22
status: NEW
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They did not have the R1459C mutation. Login to comment
159 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:159:50
status: NEW
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Extensive screening of the ABCC6 gene revealed an R1459C mutation in one allele only. Login to comment
160 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:160:85
status: NEW
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Direct sequencing of the entire cDNA, derived from both alleles, showed one mutated (R1459C) and one wild type ABCC6 transcript (not shown). Login to comment
164 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:164:16
status: NEW
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He did have the R1459C mutation. Login to comment
177 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:177:16
status: NEW
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He also had the R1459C mutation in one allele. Login to comment
181 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:181:23
status: NEW
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DNA studies showed the R1459C mutation in one allele. Login to comment
183 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:183:62
status: NEW
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ABCC6 transcript analysis showed the presence of one mutated (R1459C) and one wild type allele in all affected family members. Login to comment
203 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:203:102
status: NEW
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ABCC6 mutation analysis of a control population of 1,057 persons in our lab yielded 8 carriers of the R1141X mutation [Trip et al., 2002]. Login to comment
223 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:223:4
status: NEW
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The R1141X mutation was found in one allele of these three individuals and in a healthy uncle Fig. 2. Pedigree of family 1. Login to comment
234 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:234:49
status: NEW
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Expression studies in our lab suggested that the R1141X mutation leads to absence of protein by nonsense-mediated RNA decay [Hu et al., 2003c]. Login to comment
236 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:236:44
status: NEW
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The patients with definite PXE, in whom one R1141X mutation was found, could have a second, as yet unknown, mutation. Login to comment
260 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:260:33
status: NEW
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Recently, heterozygosity for the R1141X mutation was found to be associated with increased risk of cardiovascular disease [Trip et al., 2002]. Login to comment
269 ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:269:24
status: NEW
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Our family 3 shows that R1459C might be a mutation that can cause PXE in the heterozygous state. Login to comment