PMID: 19298904

Finger RP, Charbel Issa P, Ladewig MS, Gotting C, Szliska C, Scholl HP, Holz FG
Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.
Surv Ophthalmol. 2009 Mar-Apr;54(2):272-85., [PubMed]
Sentences
No. Mutations Sentence Comment
21 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 19298904:21:366
status: NEW
view ABCC6 p.Arg1141* details
 The exact prevalence is unknown, with a recent estimated range between 1:25,000 and 1:100,000.21 Prevalence seems to be higher in South Africa compared to other regions, possibly due to a founder effect.28 Applying the Hardy-Weinberg equilibrium, this leads to a frequency of 1.25% heterozygotes (1:80).21 In 2002, a prevalence of 3% of heterozygous carriers of the R1141X mutation of the ABCC6 gene was reported in a Dutch population of young patients affected by coronary heart disease. Login to comment