ABCMdb

PMID: 15752294

Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N
Pseudoxanthoma elasticum and nephrolithiasis.
J Eur Acad Dermatol Venereol. 2005 Mar;19(2):212-5., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC6 p.Arg1138Gln This diagnosis was confirmed by a skin biopsy (Von Kossa stain) and by genotyping analysis of ABCC6 (homozygous mutation R1138Q). Login to comment 25 ABCC6 p.Arg1138Gln Analysis of the ABCC6 gene revealed homozygosity for the previously described missense mutation R1138Q. Login to comment 33 ABCC6 p.Arg1138Gln Discussion Our patient presented all the main diagnostic criteria defined by the consensus conference of Philadelphia in 1992, which enabled confirmation of the PXE diagnosis: characteristic cutaneous lesions, typical histopathological manifestation, and characteristic ocular disease.1 The identification of the missense R1138Q mutation in the homozygous state of the ABCC6 gene in our patient therefore confirmed the diagnosis.2 His parent`s DNA was not available for the study and a deletion of one allele of the ABCC6 gene could not be ruled out. Login to comment