Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Détails
ID Serval
serval:BIB_CAD35E59F8A6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Périodique
Nature Genetics
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
2008
Volume
40
Numéro
3
Pages
287-289
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
14/03/2011 16:09
Dernière modification de la notice
20/08/2019 15:45
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