How to Cite this Article: Nagendran S, Richards AJ, McNinch A, Sandford RN, Snead MP. 2012. Somatic mosaicism and the phenotypic expression of COL2A1 mutations. Am J Med Genet Part A. 158A:1204–1207.
Somatic mosaicism and the phenotypic expression of COL2A1 mutations†
Article first published online: 11 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1204–1207, May 2012
How to Cite
Nagendran, S., Richards, A. J., McNinch, A., Sandford, R. N. and Snead, M. P. (2012), Somatic mosaicism and the phenotypic expression of COL2A1 mutations. Am. J. Med. Genet., 158A: 1204–1207. doi: 10.1002/ajmg.a.35303
- Issue published online: 18 APR 2012
- Article first published online: 11 APR 2012
- Manuscript Accepted: 27 DEC 2011
- Manuscript Received: 8 AUG 2011
- COL2A1 mutations;
- germline mosaicism;
- somatic mosaicism;
- Stickler Syndrome;
- Kniest dysplasia
Mutations in COL2A1, the gene for type II-collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative mutations tend to result in severe and often lethal skeletal dysplasias such as achondrogenesis type 2, Kniest dysplasia, and spondyloepiphyseal dysplasia congenita. Stickler syndrome, a condition characterized by ophthalmological and orofacial features, deafness and arthritis, usually, but not exclusively, results from haploinsufficiency. Overlapping features of all these disorders can also be seen in the same family. Rare reports have demonstrated that phenotypic variability can be explained in some families by somatic mosaicism. Here, we describe five further examples of somatic mosaicism of COL2A1 mutations illustrating the importance of detailed clinical evaluation and molecular testing even in clinically normal parents of affected individuals. © 2012 Wiley Periodicals, Inc.