Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

  • Nat Genet. 2008 Mar;40(3):287-9. doi: 10.1038/ng.86.
Sheila Unger  1 ,  Detlef Böhm ,  Frank J Kaiser ,  Silke Kaulfuss ,  Wiktor Borozdin ,  Karin Buiting ,  Peter Burfeind ,  Johann Böhm ,  Francisco Barrionuevo ,  Alexander Craig ,  Kristi Borowski ,  Kim Keppler-Noreuil ,  Thomas Schmitt-Mechelke ,  Bernhard Steiner ,  Deborah Bartholdi ,  Johannes Lemke ,  Geert Mortier ,  Richard Sandford ,  Bernhard Zabel ,  Andrea Superti-Furga ,  Jürgen Kohlhase
Affiliations
  • 1. Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
PMID: 18297069 DOI: 10.1038/ng.86
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.