Whole Exome Sequencing Identifies a Homozygous <i>PYCR1</i> Missense Variant in a Patient with Autosomal Recessive Cutis Laxa Type 2B: A Case Report
| Author | Ali Nikfar | en |
| Author | Mojdeh Mansouri | en |
| Author | Gita Fatemi Abhari | en |
| Orcid | Ali Nikfar [0000-0002-3217-6487] | en |
| Orcid | Mojdeh Mansouri [0000-0002-7282-6464] | en |
| Orcid | Gita Fatemi Abhari [0000-0003-0341-9408] | en |
| Issued Date | 2019-10-16 | en |
| 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. | en |
| DOI | https://doi.org/10.5812/compreped.86392 | en |
| Keyword | Autosomal Recessive Cutis Laxa Type 2B | en |
| Keyword | <i>PYCR1</i> | en |
| Keyword | Whole Exome Sequencing | en |
| Publisher | Brieflands | en |
| Title | Whole Exome Sequencing Identifies a Homozygous <i>PYCR1</i> Missense Variant in a Patient with Autosomal Recessive Cutis Laxa Type 2B: A Case Report | en |
| Type | Case Report | en |