Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
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.
Unger
Sheila
S
Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
Böhm
Detlef
D
Kaiser
Frank J
FJ
Kaulfuss
Silke
S
Borozdin
Wiktor
W
Buiting
Karin
K
Burfeind
Peter
P
Böhm
Johann
J
Barrionuevo
Francisco
F
Craig
Alexander
A
Borowski
Kristi
K
Keppler-Noreuil
Kim
K
Schmitt-Mechelke
Thomas
T
Steiner
Bernhard
B
Bartholdi
Deborah
D
Lemke
Johannes
J
Mortier
Geert
G
Sandford
Richard
R
Zabel
Bernhard
B
Superti-Furga
Andrea
A
Kohlhase
Jürgen
J
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*
C527705:CCNQ protein, human; D016213:Cyclins