Article

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

Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
Nature Genetics (Impact Factor: 29.65). 04/2008; 40(3):287-9. DOI: 10.1038/ng.86
Source: PubMed

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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Available from: Frank J Kaiser, Aug 28, 2015
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