title: Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
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.
authors.affiliation: Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Detlef
authors.initials: D
authors.lastname: Böhm
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Kaiser
authors.forename: Silke
authors.initials: S
authors.lastname: Kaulfuss
authors.forename: Wiktor
authors.initials: W
authors.lastname: Borozdin
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.forename: Peter
authors.initials: P
authors.lastname: Burfeind
authors.forename: Johann
authors.initials: J
authors.lastname: Böhm
authors.forename: Francisco
authors.initials: F
authors.lastname: Barrionuevo
authors.forename: Alexander
authors.initials: A
authors.lastname: Craig
authors.forename: Kristi
authors.initials: K
authors.lastname: Borowski
authors.forename: Kim
authors.initials: K
authors.lastname: Keppler-Noreuil
authors.forename: Thomas
authors.initials: T
authors.lastname: Schmitt-Mechelke
authors.forename: Bernhard
authors.initials: B
authors.lastname: Steiner
authors.forename: Deborah
authors.initials: D
authors.lastname: Bartholdi
authors.forename: Johannes
authors.initials: J
authors.lastname: Lemke
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Richard
authors.initials: R
authors.lastname: Sandford
authors.forename: Bernhard
authors.initials: B
authors.lastname: Zabel
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D002478:Cells, Cultured; D016213:Cyclins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005146:Facial Asymmetry / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D050172:Genes, X-Linked; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D017354:Point Mutation; D013576:Syndactyly / Q000150:complications / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics*
chemical_list: C527705:CCNQ protein, human; D016213:Cyclins