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Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome
Author(s) -
RodríguezCriado Germán,
Magano Luis,
Segovia Mabel,
Gurrieri Fiorella,
Neri Giovanni,
GonzálezMeneses Antonio,
Gómez de Terreros Ignacio,
Valdéz Rita,
Gracia Ricardo,
Lapunzina Pablo
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30920
Subject(s) - exon , failure to thrive , skeleton (computer programming) , medicine , genetics , anatomy , biology , gene
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. © 2005 Wiley‐Liss, Inc.