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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We thank the research subjects and their families for their participation, generosity and patience. We thank G. Scherer for critical discussion, P. Hermanns and B. Rösler for help with cell cultures, and C. Lich for technical assistance. J.K. received funding from the Deutsche Forschungsgemeinschaft (grant no. Ko1850/6-1,6-2).
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Unger, S., Böhm, D., Kaiser, F. et al. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 40, 287–289 (2008). https://doi.org/10.1038/ng.86
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