Brief Communication abstract
Nature Genetics 40, 287 - 289 (2008)
Published online: 24 February 2008 | doi:10.1038/ng.86
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Sheila Unger1,2,12,
Detlef Böhm3,12,
Frank J Kaiser4,
Silke Kaulfu
5,
Wiktor Borozdin3,
Karin Buiting6,
Peter Burfeind5,
Johann Böhm1,
Francisco Barrionuevo1,
Alexander Craig1,
Kristi Borowski7,
Kim Keppler-Noreuil7,
Thomas Schmitt-Mechelke8,
Bernhard Steiner9,
Deborah Bartholdi9,
Johannes Lemke9,
Geert Mortier10,
Richard Sandford11,
Bernhard Zabel1,2,
Andrea Superti-Furga2
&
Jürgen Kohlhase3
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.
- Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
- Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
- Center for Human Genetics Freiburg, D-79100 Freiburg, Freiburg, Germany.
- Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, D-23538 Lübeck, Germany.
- Institut für Humangenetik, Universität Göttingen, D-37073 Göttingen, Germany.
- Institut für Humangenetik, Universitätsklinikum Essen, D-45122 Essen, Germany.
- Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.
- Abteilung Neuropädiatrie, Kinderspital, CH-6000 Luzern, Switzerland.
- Institut für Medizinische Genetik, Universität Zürich, CH-8603 Schwerzenbach, Switzerland.
- Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium.
- Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 OXY, UK.
- These authors contributed equally to this work.
Correspondence to: Jürgen Kohlhase3 e-mail: jkohlhase@humangenetik-freiburg.de
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