PMID: 25640304

Harrington C, Beck FM, Allen CM, Kalmar JR
The prevalence of pseudoxanthoma elasticum-like connective tissue changes in an oral biopsy service and review of the literature.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Apr;119(4):441-50. doi: 10.1016/j.oooo.2014.12.003. Epub 2014 Dec 13., [PubMed]
Sentences
No. Mutations Sentence Comment
71 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25640304:71:708
status: NEW
view ABCC6 p.Arg1141* details
 Mutation analysis of the ABCC6 gene in these families clarified and confirmed an autosomal recessive mode of inheritance.4 Two-generation involvement is explained by pseudodominance.1,4,5,16 Consanguinity is strongly associated with PXE but may be difficult to confirm either because of the reluctance of current family members to discuss or disclose such a possibility or because a confident determination is simply not possible with past generations.9 ABCC6, the affected gene in PXE, was discovered in 2000,16,20-22 which led to the conclusion that PXE is a primary metabolic disorder with secondary connective tissue manifestations.23-25 Over 300 mutations of the ABCC6 gene have been identified,19 with R1141X being the most common.14,33,40 ABCC6, also known as "multidrug resistanceeassociated protein 6" (MRP6), is a member of the C-family of adenosine triphosphate (ATP)e binding cassette proteins located on chromosome 16.20,41 ABCC6 is found mainly in the liver but is also found in the kidneys and serves as a transporter of Table I. Prevalence of positive findings by decade, gender and overall (N &#bc; 500) Gender Decade First Second Third Fourth Fifth Sixth Seventh Eighth Ninth All Female Estimate 0.0 0.0 0.0 8.8 12.0 12.5 16.2 27.6 20.0 10.1 (LCB.95) 0.0 0.0 0.0 1.9 2.6 4.7 6.2 12.7 2.5 6.8 (UCB.95) 0.0 0.0 0.0 23.7 31.2 25.3 32.0 47.2 55.6 14.3 Male Estimate 0.0 0.0 3.5 11.8 8.0 6.5 28.1 8.3 66.7 9.4 (LCB.95) 0.0 0.0 0.1 3.3 0.1 0.7 13.8 0.2 9.4 5.9 (UCB.95) 0.0 0.0 17.8 27.5 26.0 21.4 46.8 38.5 99.2 14.0 All Estimate 0.0 0.0 1.9 10.3 10.0 10.1 21.7 22.0 30.8 9.8 (LCB.95) 0.0 0.0 0.1 4.4 3.3 4.5 12.7 10.6 9.1 7.3 (UCB.95) 0.0 0.0 9.9 20.0 21.8 19.0 33.3 37.6 61.4 12.8 LCB, lower confidence bound; UCB, upper confidence bound. Login to comment