Whole Exome Sequencing Identifies a Homozygous <i>PYCR1</i> Missense Variant in a Patient with Autosomal Recessive Cutis Laxa Type 2B: A Case Report

Abstract

Autosomal recessive cutis laxa type 2B (ARCL2B) is a rare genetic connective tissue disorder characterized by wrinkled inelastic skin, intellectual disability, growth retardation, developmental delay, skeletal abnormalities, and facial dysmorphism. Recently, PYCR1, encoding the pyrroline-5-carboxylate reductase 1, was reported as the first gene involved in ARCL2B. In this study, using whole exome sequencing, we identified a homozygous PYCR1 missense mutation, c.722C>A; p.Ala241Asp, in an Iranian male patient. Our report expands the clinical spectrum of PYCR1 mutations. Furthermore, this study shows that whole exome sequencing could serve as a viable diagnostic approach to identify the etiology of rare genetic diseases.