PMID: 15086584

Uitto J
Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?
J Invest Dermatol. 2004 Mar;122(3):ix-x., [PubMed]
No. Mutations Sentence Comment
29 ABCC6 p.Arg518Gln
ABCC6 p.Arg518Gln 15086584:29:116
status: NEW
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ABCC6 p.Arg518*
ABCC6 p.Arg518* 15086584:29:125
status: NEW
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In particular, these investigators found that arginine at position 518 was a recurrently mutated amino acid (either R518Q or R518X), and the remaining novel genetic lesions consisted of missense mutations, a nonsense mutation, a small in-frame deletion, and two potential splicing mutations. Login to comment
36 ABCC6 p.Asp1238His
ABCC6 p.Asp1238His 15086584:36:252
status: NEW
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ABCC6 p.Thr1130Asn
ABCC6 p.Thr1130Asn 15086584:36:361
status: NEW
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This constellation was first suggestive of autosomal dominant inheritance, however, molecular analysis found that the affected siblings were compound heterozygotes for two different combinations of mutations in ABCC6, both of them having one mutation (D1238H) possibly inherited from the clinically unaffected father, while the accompanying mutations in trans (T1130N and 180- 1120del, respectively) were thought to be inherited from the affected mother. Login to comment