Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
2008 | journal article. A publication with affiliation to the University of Göttingen.
Jump to: Cite & Linked | Documents & Media | Details | Version history
Cite this publication
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Unger, S.; Boehm, D.; Kaiser, F. J.; Kaulfuss, S.; Borozdin, W.; Buiting, K. & Burfeind, P. et al. (2008)
Nature Genetics, 40(3) pp. 287-289. DOI: https://doi.org/10.1038/ng.86
Documents & Media
closedAccess268.05 kBAdobe PDF
Details
- Authors
- Unger, Sheila; Boehm, Detlef; Kaiser, Frank J.; Kaulfuss, Silke; Borozdin, Wiktor; Buiting, Karin; Burfeind, Peter; Boehm, Johann; Barrionuevo, Francisco; Craig, Alexander; Borowski, Kristi; Keppler-Noreuil, Kim M.; Schmitt-Mechelke, Thomas; Steiner, Bernhard; Bartholdi, Deborah; Lemke, Johannes R.; Mortier, Geert; Sandford, Richard; Zabel, Bernhard; Superti-Furga, Andrea; Kohlhase, Juergen
- Abstract
- We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder. Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome.
- Issue Date
- 2008
- Status
- published
- Publisher
- Nature Publishing Group
- Journal
- Nature Genetics
- ISSN
- 1061-4036
- Sponsor
- Wellcome Trust [051279]
