NA13034
DNA from Fibroblast
Description:
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
GLYPICAN 3; GPC3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GPC3 |
| Chromosomal Location |
Xq26 |
| Allelic Variant 1 |
300037.0004; SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
| Identified Mutation |
IVS5+1G>T; In an SGBS (312870) fibroblast line, Veugelers et al. (Molec Genet 9:1321-28, 2000) found a G-to-T transversion, which is predicted to substitute the splice donor site for exon 5 with an AGT codon, thus adding an aberrant arginine residue to the protein sequence, followed by a premature stop codon. Since GPC3 is not expressed in fibroblasts, the consequences of the mutation could not be confirmed. |
| Remarks |
Clinically affected; elevated birth weight & length; postaxial polydactyly; supernumerary nipples; macrostomia; midline groove in tongue; vertebral anomalies; intestinal malrotation; dilated ventricles diagnosed prenatally; at birth there was hypoglycemia, abdominal distension, bilious vomiting and poor feeding; donor subject has a G>T transversion at nucleotide IVS5+1 (IVS5+1G>T) of the GPC3 gene [note: currently at nucleotide IVS7+1 (GenBank Build July, 2006)] that mutates the splice donor site and causes a silent change of Arg431 (AGA>AGT) and read through to a stop codon and premature termination |
| Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G, Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene Human molecular genetics9:1321-8 2000 |
| PubMed ID: 10814714 |
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| Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G, GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics53:1-11 1998 |
| PubMed ID: 9787072 |
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| Grace, Simpson-Golabi-Behmel syndrome in a neonate. Am J Hum Genet53S:A442 (1993):1-11 1993 |
| PubMed ID: 9787072 |
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