ABCMdb

PMID: 17309461

Martin L, Chassaing N, Delaite D, Esteve E, Maitre F, Le Bert M
Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
J Eur Acad Dermatol Venereol. 2007 Mar;21(3):368-73., [PubMed]

Sentences

No. Mutations Sentence Comment

44 ABCC6 p.Arg391Gly ABCC6 p.Arg391Gly The intensity of staining was qualified in each section as 'absent`, 'weak`, 'moderate` or 'heavy` in keratinocytes, papillary fibroblasts, reticular fibroblasts, pre-elastic fibres, mature elastic fibres, and elastorrhexic fibres. Results Mutation detection In family 1, the index patient had a missense mutation (replacement of arginine by glycine at codon 391, R391G) and the large deletion EX23_29del. Login to comment 45 ABCC6 p.Leu1335Pro In family 2, the patient had a missense mutation (replacement of lysine by proline at codon 1335, L1335P) and a sequence variation in intron 24 (IVS24-3 C→T). Login to comment 46 ABCC6 p.Leu1335Pro ABCC6 p.Arg391Gly EX23-29del, R391G and L1335P are already known as disease-causing mutations.22,23 IVS24-3 C→T has not previously been described. Login to comment 49 ABCC6 p.Leu1335Pro However, study of the familial segregation of nucleotide variations L1335P and IVS24-3C→T showed that the variations were not located on the same allele. Login to comment