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
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
Auteur(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
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 17:09
Dernière modification de la notice
20/08/2019 16:45
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