Title
Mutations in the cyclin family member **FAM58A** cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations Mutations in the cyclin family member **FAM58A** cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
Nature genetics. - New York, N.Y.
Volume/pages
40(2008) :3 , p. 287-289
ISSN
1061-4036
ISI
000253548400018
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single motherdaughter 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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