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Nat Genet. 2008 Mar;40(3):287-9. doi: 10.1038/ng.86. Epub 2008 Feb 24.

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

Author information

1
Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.

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.

PMID:
18297069
DOI:
10.1038/ng.86
[Indexed for MEDLINE]

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