Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

Abstract

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.

• Authors: Nayereh Nouri, Omid Aryani, Narges Nouri, Behnam Kamalidehghan, Massoud Houshmand
• Journal: Pediatric dermatology (Pediatr Dermatol) 2013 Nov-Dec Vol. 30 Issue 6 Pg. e265-7 ISSN: 1525-1470 [Electronic] United States
• PMID: 23406396 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• Pyrroline Carboxylate Reductases
• delta-1-pyrroline-5-carboxylate reductase

Topics

• Adolescent
• Cutis Laxa (genetics, pathology)
• Gene Deletion
• Humans
• Male
• Pyrroline Carboxylate Reductases (genetics)
• Skin (pathology)