NA04994
DNA from Fibroblast
Description:
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.7 |
| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ABCC6 |
| Chromosomal Location |
16p13.1 |
| Allelic Variant 1 |
603234.0001; PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE |
| Identified Mutation |
ARG1141TER; In a large consanguineous Italian family segregating autosomal recessive pseudoxanthoma elasticum (264800), Le Saux et al. [Nature Genet. 25: 223-227 (2000)] identified a C-to-T transition at nucleotide 3421 in exon 24 of the ABCC6 gene, resulting in an arg-to-ter substitution at codon 1141 (R1141X). |
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| Gene |
ABCC6 |
| Chromosomal Location |
16p13.1 |
| Allelic Variant 2 |
603234.0013; PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE |
| Identified Mutation |
ARG1164TER; Ringpfeil et al. [Am. J. Hum. Genet. 68: 642-652 (2001)] studied 4 multiplex families with PXE (264800) inherited in an autosomal recessive pattern. In each family, the proband was a compound heterozygote for a single-bp substitution mutation (3490C-T; arg1164 to ter) and a novel deletion of approximately 16.5 kb spanning the site of the single-bp substitution in trans (i.e., on the homologous chromosome 16) (603234.0014). |
| Remarks |
Clinically affected; similarly affected sib; involvement includes eyes, skin, & gastrointestinal tract; neither parent showed signs of PXE; donor subject is a compound heterozygote: allele 1 carries a C>T transition at nucleotide 3421 (3421C>T) in exon 24 of the ABCC6 gene resulting in an Arg to Ter substitution at codon 1141 [Arg1141Ter (R1141X)]; allele 2 carries a C>T transition at nucleotide 3490 (3490C>T) in exon 24 resulting in an Arg to Ter substitution at codon 1164 [Arg1164Ter (R1164X)]. |
| Cunningham JR, Lippman SM, Renie WA, Francomano CA, Maumenee IH, Pyeritz RE, Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance. Johns Hopkins Med J147:168-73 1980 |
| PubMed ID: 6968373 |
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