ABCC6 p.Trp218Cys
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PMID: 16410789
[PubMed]
Ringpfeil F et al: "Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity."
No.
Sentence
Comment
29
Among the other mutations identified, three were novel missense mutations: W218C, T811M, and R1164Q.
X
ABCC6 p.Trp218Cys 16410789:29:75
status: NEW30 In addition, a previously unpublished nonsense mutation W1324X was F568S/R1141X W1324X/R1141X Family 4 R1138W/R1138W R1138W/R1138W -/R1138W R1138W/- R1138W/- R1138W/- Family 6 R391G/R1138W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/- ?
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ABCC6 p.Trp218Cys 16410789:30:229
status: NEWX
ABCC6 p.Trp218Cys 16410789:30:241
status: NEWX
ABCC6 p.Trp218Cys 16410789:30:256
status: NEWX
ABCC6 p.Trp218Cys 16410789:30:277
status: NEW42 In Family 2, the three children were compound heterozygotes with two different combinations (del23-29/W218C and R391G/W218C).
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ABCC6 p.Trp218Cys 16410789:42:102
status: NEWX
ABCC6 p.Trp218Cys 16410789:42:118
status: NEW44 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.
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ABCC6 p.Trp218Cys 16410789:44:51
status: NEW71 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.
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ABCC6 p.Trp218Cys 16410789:71:299
status: NEW