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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
view ABCC6 p.Arg1141* details
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.
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133
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:133:25
status:
NEW
view ABCC6 p.Arg1141* details
However, he did have the
R1141X
mutation.
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138
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:138:17
status:
NEW
view ABCC6 p.Arg1141* details
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.
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141
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:141:34
status:
NEW
view ABCC6 p.Arg1141* details
She also was heterozygous for the
R1141X
mutation.
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144
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:144:26
status:
NEW
view ABCC6 p.Arg1141* details
One of the uncles had the
R1141X
mutation.
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153
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:153:28
status:
NEW
view ABCC6 p.Arg1459Cys details
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).
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156
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:156:22
status:
NEW
view ABCC6 p.Arg1459Cys details
They did not have the
R1459C
mutation.
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159
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:159:50
status:
NEW
view ABCC6 p.Arg1459Cys details
Extensive screening of the ABCC6 gene revealed an
R1459C
mutation in one allele only.
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160
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:160:85
status:
NEW
view ABCC6 p.Arg1459Cys details
Direct sequencing of the entire cDNA, derived from both alleles, showed one mutated (
R1459C
) and one wild type ABCC6 transcript (not shown).
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164
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:164:16
status:
NEW
view ABCC6 p.Arg1459Cys details
He did have the
R1459C
mutation.
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177
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:177:16
status:
NEW
view ABCC6 p.Arg1459Cys details
He also had the
R1459C
mutation in one allele.
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181
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:181:23
status:
NEW
view ABCC6 p.Arg1459Cys details
DNA studies showed the
R1459C
mutation in one allele.
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183
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:183:62
status:
NEW
view ABCC6 p.Arg1459Cys details
ABCC6 transcript analysis showed the presence of one mutated (
R1459C
) and one wild type allele in all affected family members.
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203
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:203:102
status:
NEW
view ABCC6 p.Arg1141* details
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].
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223
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:223:4
status:
NEW
view ABCC6 p.Arg1141* details
The
R1141X
mutation was found in one allele of these three individuals and in a healthy uncle Fig. 2. Pedigree of family 1.
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234
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:234:49
status:
NEW
view ABCC6 p.Arg1141* details
Expression studies in our lab suggested that the
R1141X
mutation leads to absence of protein by nonsense-mediated RNA decay [Hu et al., 2003c].
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236
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:236:44
status:
NEW
view ABCC6 p.Arg1141* details
The patients with definite PXE, in whom one
R1141X
mutation was found, could have a second, as yet unknown, mutation.
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260
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15098239:260:33
status:
NEW
view ABCC6 p.Arg1141* details
Recently, heterozygosity for the
R1141X
mutation was found to be associated with increased risk of cardiovascular disease [Trip et al., 2002].
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269
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 15098239:269:24
status:
NEW
view ABCC6 p.Arg1459Cys details
Our family 3 shows that
R1459C
might be a mutation that can cause PXE in the heterozygous state.
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