Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

doi:10.1016/j.ajhg.2011.05.012

Article

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

American journal of human genetics - 15 Jul 2011

Le Goff Carine, Mahaut Clémentine, Wang Lauren W, Allali Slimane, Abhyankar Avinash, Jensen Sacha, Zylberberg Louise, Collod-Beroud Gwenaelle, Bonnet Damien, Alanay Yasemin, Brady Angela F, Cordier Marie-Pierre, Devriendt Koen, Genevieve David, Kiper Pelin Özlem Simsek, Kitoh Hiroshi, Krakow Deborah, Lynch Sally Ann, Le Merrer Martine, Mégarbane André, Mortier Geert, Odent Sylvie, Polak Michel, Rohrbach Marianne, Sillence David, Stolte-Dijkstra Irene, Superti-Furga Andrea, Rimoin David L, Topouchian Vicken, Unger Sheila, Zabel Bernhard, Bole-Feysot Christine, Nitschke Patrick, Handford Penny, Casanova Jean-Laurent, Boileau Catherine, Apte Suneel S, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although AD has an unknown molecular basis, we have previously identified ADAMTSL2 mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in...

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

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