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

• Published in: Nature genetics Vol. 40; no. 3; pp. 287 - 289
• Main Authors: Kohlhase, Jürgen, Unger, Sheila, Böhm, Detlef, Kaiser, Frank J, Kaulfuß, Silke, Borozdin, Wiktor, Buiting, Karin, Burfeind, Peter, Böhm, Johann, Barrionuevo, Francisco, Craig, Alexander, Borowski, Kristi, Keppler-Noreuil, Kim, Schmitt-Mechelke, Thomas, Steiner, Bernhard, Bartholdi, Deborah, Lemke, Johannes, Mortier, Geert, Sandford, Richard, Zabel, Bernhard, Superti-Furga, Andrea
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.03.2008
• Subjects: Anal Canal - abnormalities; Biological and medical sciences; Birth defects; Cells, Cultured; Chromosomes; Complications and side effects; Cyclins - genetics; Diagnosis; Diseases of the osteoarticular system; DNA Mutational Analysis; Facial Asymmetry - complications; Facial Asymmetry - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene mutations; Genes, Dominant; Genes, X-Linked; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Humans; Identification and classification; Infant; Kidney - abnormalities; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Malformations of the eye; Medical sciences; Mutation; Ophthalmology; Point Mutation; Polymerase chain reaction; Risk factors; Syndactyly - complications; Syndactyly - genetics; Urogenital Abnormalities - complications; Urogenital Abnormalities - genetics; Women; Germany; Sex linked character; Diseases of the osteoarticular system; Finger; Cyclin; Dysostosis; Congenital disease; Kidney; Genetic disease; Eye disease; Urinary system; Disease of the hand; Eyelid disease; Malformation; Telecanthus; Syndactyly; Upper limb; X-Chromosome; Mutation
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.86

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.