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

Details

Serval ID
serval:BIB_CAD35E59F8A6
Type
Article: article from journal or magazin.
Collection
Publications
Title
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Journal
Nature Genetics
Author(s)
Unger S., Böhm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Böhm J., Barrionuevo F., Craig A., Borowski K., Keppler-Noreuil K., Schmitt-Mechelke T., Steiner B., Bartholdi D., Lemke J., Mortier G., Sandford R., Zabel B., Superti-Furga A., Kohlhase J.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
2008
Volume
40
Number
3
Pages
287-289
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
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.
Keywords
Anal Canal/abnormalities, Cells, Cultured, Cyclins/genetics, DNA Mutational Analysis, Facial Asymmetry/complications, Facial Asymmetry/genetics, Female, Genes, Dominant, Genes, X-Linked, Humans, Infant, Kidney/abnormalities, Point Mutation, Syndactyly/complications, Syndactyly/genetics, Urogenital Abnormalities/complications, Urogenital Abnormalities/genetics
Pubmed
Create date
14/03/2011 17:09
Last modification date
20/08/2019 16:45
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