Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene
Version of Record online: 14 FEB 2013
© 2013 Wiley Periodicals, Inc.
Volume 30, Issue 6, pages e265–e267, November/December 2013
How to Cite
Nouri, N., Aryani, O., Nouri, N., Kamalidehghan, B. and Houshmand, M. (2013), Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene. Pediatric Dermatology, 30: e265–e267. doi: 10.1111/pde.12065
- Issue online: 13 NOV 2013
- Version of Record online: 14 FEB 2013
- Genetics Department, Special Medical Center of Tehran, Iran
A 14-year-old Iranian boy with congenital cutis laxa and several other typical autosomal recessive type II features was examined. Mutation analysis of the pyrroline-5-carboxylate reductase 1 gene revealed a single-base deletion (c.345delC) in exon 4 leading to frame shift and premature termination of translation.