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

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.

• Authors: Sheila Unger, 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
• Journal: Nature genetics (Nat Genet) Vol. 40 Issue 3 Pg. 287-9 (Mar 2008) ISSN: 1546-1718 [Electronic] United States
• PMID: 18297069 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CCNQ protein, human
• Cyclins

Topics

• Anal Canal (abnormalities)
• Cells, Cultured
• Cyclins (genetics)
• DNA Mutational Analysis
• Facial Asymmetry (complications, genetics)
• Female
• Genes, Dominant
• Genes, X-Linked
• Humans
• Infant
• Kidney (abnormalities)
• Point Mutation
• Syndactyly (complications, genetics)
• Urogenital Abnormalities (complications, genetics)