title: 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: Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Disease Research Center, Isfahan, Iran.
authors: Nayereh
authors: N
authors: Nouri
authors: Omid
authors: O
authors: Aryani
authors: Narges
authors: N
authors: Nouri
authors: Behnam
authors: B
authors: Kamalidehghan
authors: Massoud
authors: M
authors: Houshmand
mesh_terms: D000293:Adolescent; D003483:Cutis Laxa / Q000235:genetics* / Q000473:pathology*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D011762:Pyrroline Carboxylate Reductases / Q000235:genetics*; D012867:Skin / Q000473:pathology*; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase
chemical_list: D011762:Pyrroline Carboxylate Reductases; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase