A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome.
Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.
Okamoto
N
N
Department of Planning and Research, Osaka Medical Center, Japan. yb9n-okmt@asahi-net.or.jp
Yagi
M
M
Imura
K
K
Wada
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D053673:Glypicans; D006130:Growth Disorders / Q000235:genetics*; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate / Q000235:genetics*; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011509:Proteoglycans / Q000235:genetics*; D011859:Radiography; D017384:Sequence Deletion; D013577:Syndrome
D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate; D011509:Proteoglycans