Novel duplication in glypican‐4 as an apparent cause of Simpson–Golabi–Behmel syndrome

Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome

“…We therefore agree with several authors that SGBS2 should be considered as a distinct condition with overlapping symptoms [Golabi et al, 2011]. In 2010, a duplication of all 9 exons of GPC4, close to GPC3 at its 3 0 end, was identified in the family reported by Golabi and Rosen [1984], suggesting that GPC4 could be the second gene of SGBS [Waterson et al, 2010]. However, although GPC3 was not simultaneously duplicated, the precise boundaries of the duplication were apparently not explored by alternative methods such as array-CGH.…”

Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

“…GPC5 and GPC6, show homology with the GPC3 (OMIM 300037) and GPC4 (OMIM 300168) genes residing adjacently on Xq26. GPC3 and GPC4 mutations are involved in the X-linked recessive overgrowth disorder, Simpson-Golabi-Behmel syndrome type 1 (SGBS1) (OMIM 312870) [Pilia et al, 1996;Waterson et al, 2010], where diaphragmatic hernia is one of the features [Slavotinek, 2007]. The GPC3 mutations leading to SGBS1 are mutations, and deletion of exons to the entire gene; while duplication of one or more exons, or the entire GPC4 gene have been associated with SGBS1, suggesting dosage sensitivity.…”

Signalling Mechanisms Underlying Congenital Malformation: The Gatekeepers, Glypicans

“…Interestingly, one Simpson-Golabi-Behmel Syndrome patient has a deletion affecting both Gpc-3 and Gpc-4, which is found immediately centromeric to Gpc-3 at Xq26 (Veugelers et al, 1998). Recently, a wide screening has identified patients carrying mutations in the Gpc-4 but not in the Gpc-3 gene (Waterson et al, 2010). We anticipate that future research will extensively evaluate whether connections between GPC-4 functions and the clinical features of this syndrome exist.…”