Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.
The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies syndrome caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). It shows great clinical variability, ranging from mild forms in carrier females to lethal forms with failure to thrive in males. The most consistent findings in SGBS are pre- and postnatal macrosomia, characteristic facial anomalies and abnormalities affecting the internal organs, skeleton, and on some occasions, mental retardation of variable degree. SGBS is also associated with an increased risk of developing embryonal tumors, mostly Wilms and liver tumors. We describe two molecularly-confirmed families with SGBS. All patients had typical manifestations of SGBS including some female relatives who had minor manifestations of the disorder. Some patients had novel findings such as a deep V-shaped sella turcica and six lumbar vertebrae. Molecular studies in affected patients showed a deletion of exon 6 in family 1 and an intronic mutation in family 2.
Rodríguez-Criado
Germán
G
Unidad de Dismorfología, Hospital Virgen del Rocío, Sevilla, Spain.
Magano
Luis
L
Segovia
Mabel
M
Gurrieri
Fiorella
F
Neri
Giovanni
G
González-Meneses
Antonio
A
Gómez de Terreros
Ignacio
I
Valdéz
Rita
R
Gracia
Ricardo
R
Lapunzina
Pablo
P
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D001483:Base Sequence; D020732:Cytogenetic Analysis; D019066:Facies; D005260:Female; D005320:Fetal Macrosomia / Q000235:genetics* / Q000503:physiopathology; D053673:Glypicans / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D017384:Sequence Deletion; D013577:Syndrome
C105937:GPC3 protein, human; D053673:Glypicans