Mutations in PYCR1 cause cutis laxa with progeroid features.

doi:10.1038/ng.413

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Article

Mutations in PYCR1 cause cutis laxa with progeroid features.

Nature genetics - 1 Sept 2009

Reversade Bruno, Escande-Beillard Nathalie, Dimopoulou Aikaterini, Fischer Björn, Chng Serene C, Li Yun, Shboul Mohammad, Tham Puay-Yoke, Kayserili Hülya, Al-Gazali Lihadh, Shahwan Monzer, Brancati Francesco, Lee Hane, O'Connor Brian D, Schmidt-von Kegler Mareen, Merriman Barry, Nelson Stanley F, Masri Amira, Alkazaleh Fawaz, Guerra Deanna, Ferrari Paola, Nanda Arti, Rajab Anna, Markie David, Gray Mary, Nelson John, Grix Arthur, Sommer Annemarie, Savarirayan Ravi, Janecke Andreas R, Steichen Elisabeth, Sillence David, Hausser Ingrid, Budde Birgit, Nürnberg Gudrun, Nürnberg Peter, Seemann Petra, Kunkel Désirée, Zambruno Giovanna, Dallapiccola Bruno, Schuelke Markus, Robertson Stephen, Hamamy Hanan, Wollnik Bernd, Van Maldergem Lionel, Mundlos Stefan, Kornak Uwe

Abstract excerpt

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...

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PMID: 19648921
DOI: 10.1038/ng.413

Genes

PYCR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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