Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

ISSN
1061-4036
Date Issued
2008-12
Author(s)
Hennies, Hans Christian
Zhang, Haikuo
Egerer, Johannes
Zhang, Xin
Seifert, Wenke
Kühnisch, Jirko
Budde, Birgit
Nätebus, Marc
Brancati, Francesco
Wilcox, William R
Müller, Dietmar
Kaplan, Paige B
Rajab, Anna
Zampino, Giuseppe
Fodale, Valentina
Dallapiccola, Bruno
Newman, William
Metcalfe, Kay
Clayton-Smith, Jill
Tassabehji, May
Steinmann, Beat
Barr, Francis A
Nürnberg, Peter
Wieacker, Peter
Mundlos, Stefan
DOI
10.1038/ng.252
Abstract
Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.