Article
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Nature genetics - 18 May 2012
Harakalova Magdalena, van Harssel Jeske J T, Terhal Paulien A, van Lieshout Stef, Duran Karen, Renkens Ivo, Amor David J, Wilson Louise C, Kirk Edwin P, Turner Claire L S, Shears Debbie, Garcia-Minaur Sixto, Lees Melissa M, Ross Alison, Venselaar Hanka, Vriend Gert, Takanari Hiroki, Rook Martin B, van der Heyden Marcel A G, Asselbergs Folkert W, Breur Hans M, Swinkels Marielle E, Scurr Ingrid J, Smithson Sarah F, Knoers Nine V, van der Smagt Jasper J, Nijman Isaac J, Kloosterman Wigard P, van Haelst Mieke M, van Haaften Gijs, Cuppen Edwin
Abstract excerpt
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP))...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.