whole exome sequencing identifies a homozygous pycr1 missense variant in a patient with autosomal recessive cutis laxa type 2b: a case report

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.