TY - JOUR
T1 - Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
AU - Unger, Sheila
AU - Böhm, Detlef
AU - Kaiser, Frank J.
AU - Kaulfuß, Silke
AU - Borozdin, Wiktor
AU - Buiting, Karin
AU - Burfeind, Peter
AU - Böhm, Johann
AU - Barrionuevo, Francisco
AU - Craig, Alexander
AU - Borowski, Kristi
AU - Keppler-Noreuil, Kim
AU - Schmitt-Mechelke, Thomas
AU - Steiner, Bernhard
AU - Bartholdi, Deborah
AU - Lemke, Johannes
AU - Mortier, Geert
AU - Sandford, Richard
AU - Zabel, Bernhard
AU - Superti-Furga, Andrea
AU - Kohlhase, Jürgen
PY - 2008/1/1
Y1 - 2008/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=39749126187&partnerID=8YFLogxK
U2 - 10.1038/ng.86
DO - 10.1038/ng.86
M3 - Journal articles
C2 - 18297069
AN - SCOPUS:39749126187
SN - 1061-4036
VL - 40
SP - 287
EP - 289
JO - Nature Genetics
JF - Nature Genetics
IS - 3
ER -
