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
Institution
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
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 16:09
Last modification date
20/08/2019 15:45
Usage data
