Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

Autor Reichenberger, E. Google Scholar
Tiziani, Valdenize Autor UNIFESP Google Scholar
Watanabe, S. Google Scholar
Park, L. Google Scholar
Ueki, Y. Google Scholar
Santanna, C. Google Scholar
Baur, S. T. Google Scholar
Shiang, R. Google Scholar
Grange, D. K. Google Scholar
Beighton, P. Google Scholar
Gardner, J. Google Scholar
Hamersma, H. Google Scholar
Sellars, S. Google Scholar
Ramesar, R. Google Scholar
Lidral, A. C. Google Scholar
Sommer, A. Google Scholar
Amaral, Cássio Menezes Raposo do Autor UNIFESP Google Scholar
Gorlin, R. J. Google Scholar
Mulliken, J. B. Google Scholar
Olsen, B. R. Google Scholar
Instituição Harvard Sch Dent Med
Harvard Univ
Universidade Federal de São Paulo (UNIFESP)
Inst Cirurg Plast Craniofacial SOBRAPAR
Showa Univ
Virginia Commonwealth Univ
St Louis Univ
Univ Cape Town
Ohio State Univ
Childrens Hosp
Univ Minnesota
Resumo 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 similar to5-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 five different families and in isolated cases, in ANK, a multipass transmembrane protein involved in the transport of intracellular pyrophosphate into extracellular matrix. the mutations are two in-frame deletions and one in-frame insertion caused by a splicing defect. All mutations cluster within seven amino acids in one of the six possible cytosolic domains of ANK. These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization.
Idioma Inglês
Data de publicação 2001-06-01
Publicado em American Journal of Human Genetics. Chicago: Univ Chicago Press, v. 68, n. 6, p. 1321-1326, 2001.
ISSN 0002-9297 (Sherpa/Romeo, fator de impacto)
Publicador Univ Chicago Press
Extensão 1321-1326
Fonte http://dx.doi.org/10.1086/320612
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000169094600002
Endereço permanente http://repositorio.unifesp.br/handle/11600/26561

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