How to Cite this Article: Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G. 2012. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia Torrance type in mother and fetus with the same COL2A1 mutation. Am J Med Genet Part A. 158A:1948–1952.
Article first published online: 11 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 8, pages 1948–1952, August 2012
How to Cite
Désir, J., Cassart, M., Donner, C., Coucke, P., Abramowicz, M. and Mortier, G. (2012), Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. Am. J. Med. Genet., 158A: 1948–1952. doi: 10.1002/ajmg.a.35301
The authors declare no conflict of interest.
- Issue published online: 19 JUL 2012
- Article first published online: 11 APR 2012
- Manuscript Accepted: 31 DEC 2011
- Manuscript Received: 26 AUG 2011
- Belgian FNRS and the Fonds Erasme
- Research Foundation-Flanders. Grant Number: G.0331.03
- Ghent University. Grant Number: 12051203
- spondyloperipheral dysplasia
We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild brachydactyly. Mutation analysis of COL2A1 identified a novel in-frame deletion c.4458_4460delCTT (p.Phe1486del) in the C-propeptide region of the molecule, confirming the clinical diagnosis. The phenotype in the mother was compatible with mild spondyloperipheral dysplasia (SPPD). Molecular studies documented somatic mosaicism for the same mutation in the mother. This observation further highlights the causal relationship between PLSD-T and SPPD and emphasizes the importance of evaluating parents when confronted with a skeletal dysplasia in a prenatal setting. © 2012 Wiley Periodicals, Inc.