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

Nayereh Nouri; Omid Aryani; Narges Nouri; Behnam Kamalidehghan; Massoud Houshmand

doi:10.1111/pde.12065

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

Pediatr Dermatol. 2013 Nov-Dec;30(6):e265-7. doi: 10.1111/pde.12065. Epub 2013 Feb 14.

Authors

Nayereh Nouri¹, Omid Aryani, Narges Nouri, Behnam Kamalidehghan, Massoud Houshmand

Affiliation

¹ Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Disease Research Center, Isfahan, Iran.

PMID: 23406396
DOI: 10.1111/pde.12065

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Cutis Laxa / genetics*
Cutis Laxa / pathology*
Gene Deletion
Humans
Male
Pyrroline Carboxylate Reductases / genetics*
Skin / pathology*
delta-1-Pyrroline-5-Carboxylate Reductase

Substances

Pyrroline Carboxylate Reductases

Supplementary concepts

Cutis Laxa, Autosomal Recessive, Type IIB