Simpson-Golabi-Behmel Syndrome Research Articles

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5' and 3' ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. GPC3 encodes a putative extracellular proteoglycan, glypican 3, that is inferred to play an important role in growth control in embryonic mesodermal tissues in which it is selectively expressed. Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.

Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.

Linkage analysis was performed in 2 previously described European families segregating for the Simpson-Golabi-Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax = 4.45 at theta = 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax = 7.5 at theta = 0.00) reported recently by others after studying a large Dutch-Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00-0.04.

Simpson‐Golabi‐Behmel syndrome (SGBS) in a female with an X‐autosome translocation

Simpson‐Golabi‐Behmel syndrome (SGBS) in a female with an X‐autosome translocation

Origin of Pigment Cells from the Neural Crest in the Mouse Embryo

testing the pigment-forming potency of various portions of mouse embryos of a potentially pigmented (black) strain, evidence was obtained which suggested that the migratory pigment-forming cells, the melanophores, take their origin from the neural crest, as in other vertebrates, e.g., amphibians and birds.The results of grafting a variety of embryonic mouse tissues, such as skin ectoderm plus the underlying mesoderm, somites with and without the adjacent neural tube, limb buds and prospective limb buds, from various body levels, showed