This website provides information on patients with mutations in the PYCR1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PYCR1 gene is a multisystem disorder characterized by:

Loose, inelastic skin (cutis laxa) often most evident on the face, trunk, and extremities
Progeroid appearance (aged facial features)
Developmental delay / intellectual disability
Growth retardation and failure to thrive
Hypotonia and sometimes joint laxity
Skeletal anomalies (pectus deformity, scoliosis)
Craniofacial features: prominent forehead, down-slanting palpebral fissures, large ears
Occasional ocular findings: keratoconus, cataracts
Mitochondrial dysfunction evidence in fibroblasts (since PYCR1 participates in proline biosynthesis and redox balance)

Not all individuals with a mutation in the PYCR1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PYCR1 gene.

Dar-Shong Lin, MD, PhD, MacKay Memorial Hospital, Taipei, Taiwan, lin.ds.md@gmail.com