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

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

Affiliation

  • 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.

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