Premium
Cutis Laxa Type II with Mutation in the Pyrroline‐5‐Carboxylate Reductase 1 Gene
Author(s) -
Nouri Nayereh,
Aryani Omid,
Nouri Narges,
Kamalidehghan Behnam,
Houshmand Massoud
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12065
Subject(s) - cutis laxa , exon , mutation , medicine , gene , genetics , biology , dermatology
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.