Mutations in PYCR1 cause cutis laxa with progeroid features

@article{Reversade2009MutationsIP,
  title={Mutations in PYCR1 cause cutis laxa with progeroid features},
  author={B. Reversade and N. Escande-Beillard and Aikaterini Dimopoulou and B. Fischer and Serene C Chng and Y. Li and M. Shboul and P. Tham and H. Kayserili and L. Al-Gazali and M. Shahwan and F. Brancati and Hane Lee and Brian O'Connor and M. S. Kegler and B. Merriman and S. Nelson and A. Masri and F. Al-kazaleh and D. Guerra and P. Ferrari and A. Nanda and A. Rajab and D. Markie and M. J. Gray and J. Nelson and A. Grix and A. Sommer and R. Savarirayan and A. Janecke and E. Steichen and D. Sillence and I. Hausser and B. Budde and G. N{\"u}rnberg and P. N{\"u}rnberg and P. Seemann and D. Kunkel and G. Zambruno and B. Dallapiccola and M. Schuelke and S. Robertson and H. Hamamy and B. Wollnik and L. Maldergem and S. Mundlos and U. Kornak},
  journal={Nature Genetics},
  year={2009},
  volume={41},
  pages={1016-1021}
}
Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candidate region, we detected disease-causing mutations in the gene PYCR1. We found that the gene product, an enzyme involved in proline metabolism, localizes to… Expand
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Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
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