How to cite this article: Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GCM. 2008. Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet Part A 146A:3034–3037.
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24†
Article first published online: 12 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 23, pages 3034–3037, 1 December 2008
How to Cite
Newman, W. G., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K. A., Mundlos, S., Tassabehji, M. and Black, G. C.M. (2008), Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am. J. Med. Genet., 146A: 3034–3037. doi: 10.1002/ajmg.a.32564
- Issue published online: 20 NOV 2008
- Article first published online: 12 NOV 2008
- Manuscript Accepted: 28 AUG 2008
- Manuscript Received: 20 MAR 2008
- Manchester NIHR Biomedical Research Centre
- Italian Ministry of Health. Grant Number: Ricerca Corrente 2008
- geroderma osteodysplastica;
- chromosome 1q24;
- wrinkly skin
Important insights into the etiology of osteoporosis have been gained by the study of single gene disorders, including osteogenesis imperfecta. We report on the genetic mapping of geroderma osteodysplastica (GO), a rare autosomal recessive disorder of the connective tissue, characterized by wrinkly skin and severe osteoporosis. We undertook autozygosity mapping in one Libyan and four consanguineous Pakistani families with a total of 10 affected individuals to define a 4 Mb homozygous region on chromosome 1q24, which harbors the GO causative gene. No obvious candidate genes that encode known protein constituents of the extracellular matrix are found in the linked region. Importantly, our study demonstrates that GO is not allelic to wrinkly skin syndrome caused by mutations in ATP6V0A2. © 2008 Wiley-Liss, Inc.