ABCMdb

ABCC6 p.Trp218Cys

LOVD-ABCC6:	p.Trp218Cys D
Predicted by SNAP2:	A: D (85%), C: D (80%), D: D (91%), E: D (85%), F: D (75%), G: D (91%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (85%), N: D (91%), P: D (95%), Q: D (91%), R: D (91%), S: D (91%), T: D (85%), V: D (85%), Y: D (63%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: D,

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Publications
[hide] Pseudoxanthoma elasticum is a recessive disease ch... J Invest Dermatol. 2006 Apr;126(4):782-6. Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
J Invest Dermatol. 2006 Apr;126(4):782-6., [PMID:16410789]

Abstract [show]
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with affected individuals in two different generations and sequenced the entire coding region of ABCC6 in affected individuals, presumed carriers with a limited phenotype and unaffected family members. Two allelic mutations were identified in each individual with unambiguous diagnosis of PXE, as well as in those with only minimal clinical signs suggestive of PXE but with positive skin biopsy. Missense mutations were frequently detected in the latter cases. In conclusion, PXE is inherited in an autosomal recessive manner and presence of disease in two generations is due to pseudodominance.

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Sentences [show]
No. Sentence Comment
29 Among the other mutations identified, three were novel missense mutations: W218C, T811M, and R1164Q. Login to comment
30 In addition, a previously unpublished nonsense mutation W1324X was F568S/R1141X W1324X/R1141X Family 4 R1138W/R1138W R1138W/R1138W -/R1138W R1138W/- R1138W/- R1138W/- Family 6 R391G/R1138W R391G/R1138W Family 7 Family 2 Del23-29/W218C R391G/W218C Del23-29/W218C Del23-29/R391G W218C/- Del23-29/- Del23-29/- ? Login to comment
42 In Family 2, the three children were compound heterozygotes with two different combinations (del23-29/W218C and R391G/W218C). Login to comment
44 However, the father, a heterozygous carrier of the W218C mutation, as well as the maternal grandmother, carrier of the del23-29 mutation, were clinically unaffected. Login to comment
71 It is of interest that in Family 2, the eldest son and the daughter had a clearcut clinical diagnosis of PXE, yet the second son, upon examination by a dermatologist and an ophthalmologist, showed no clinical evidence of PXE at the age of 37 years even though he was compound heterozygous for R391G/W218C mutations. Login to comment