2001
DOI: 10.1086/320612
|View full text |Cite
|
Sign up to set email alerts
|

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Abstract: Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an approximately 5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954. Mutational analysis of positional candidate genes was performed, and we describe herein three different mutations, in … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

1
118
0

Year Published

2001
2001
2016
2016

Publication Types

Select...
6
3
1

Relationship

0
10

Authors

Journals

citations
Cited by 177 publications
(119 citation statements)
references
References 16 publications
1
118
0
Order By: Relevance
“…Ank is a transmembrane protein that is thought to mediate PP i transport. In mice, loss-offunction mutations of Ank lead to arthritis, ectopic crystal formation, and generalized joint fusion, (51) whereas, in humans, dominant mutations are associated with craniometaphyseal dysplasia (52,53) and familial chondrocalcinosis. (54,55) Thus, like Enpp1, decreased Ank expression in the spinal tissues of ENT1 -/-mice would be expected to further suppress extracellular PP i levels, permitting the formation of ectopic mineral deposits.…”
Section: Discussionmentioning
confidence: 99%
“…Ank is a transmembrane protein that is thought to mediate PP i transport. In mice, loss-offunction mutations of Ank lead to arthritis, ectopic crystal formation, and generalized joint fusion, (51) whereas, in humans, dominant mutations are associated with craniometaphyseal dysplasia (52,53) and familial chondrocalcinosis. (54,55) Thus, like Enpp1, decreased Ank expression in the spinal tissues of ENT1 -/-mice would be expected to further suppress extracellular PP i levels, permitting the formation of ectopic mineral deposits.…”
Section: Discussionmentioning
confidence: 99%
“…At present, the biological role and function of ANK remains unclear. Although mutations are found in patients with 'pyrophosphate' diseases such as chondrocalcinosis [29,30], loss of function mutations are also found in other skeletal disorders, notably craniometaphysial dysplasia (CMD) [31,32]. This autosomal dominant condition is characterised by abnormal bone mineralisation leading to craniofacial bone thickening, widened long-bone metaphyses and increased cortical thickness.…”
Section: Generation and Regulation Of Extracellular Pyrophosphatementioning
confidence: 99%
“…It is a pyrophosphate transporter, so presumably the source of the pyrophosphate is intracellular although the biochemical pathway is unknown. Mutations in its human homolog, ANKH, cause a group of diseases including craniometaphysial dysplasia and chondrocalcinosis [Reichenberger et al, 2001;Nurnberg et al, 2001;Williams et al, 2002;Pendleton et al, 2002].…”
Section: Equationmentioning
confidence: 99%