AIMS OF THE STUDY: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel syndrome (SGBS). SUBJECTS AND METHODS: PCR analysis using primer pairs which amplify fragments from each of the eight exons of the GPC3 gene was carried out in a series of 18 families with SGBS (approximately half of reported cases). RESULTS: Deletions were detected in only five families (one reported previously). We found deletions in all exons of the gene except exon 3. CONCLUSIONS: Our results suggest that large scale deletions may be less common in SGBS than was originally thought. One patient, with an exon 4 and 5 deletion, lacked the characteristic facial dysmorphic features. This raises the possibility of involvement of GPC3 gene defects in a wider range of overgrowth disorders.
AIMS OF THE STUDY: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel syndrome (SGBS). SUBJECTS AND METHODS: PCR analysis using primer pairs which amplify fragments from each of the eight exons of the GPC3 gene was carried out in a series of 18 families with SGBS (approximately half of reported cases). RESULTS: Deletions were detected in only five families (one reported previously). We found deletions in all exons of the gene except exon 3. CONCLUSIONS: Our results suggest that large scale deletions may be less common in SGBS than was originally thought. One patient, with an exon 4 and 5 deletion, lacked the characteristic facial dysmorphic features. This raises the possibility of involvement of GPC3 gene defects in a wider range of overgrowth disorders.
Authors: G Pilia; R M Hughes-Benzie; A MacKenzie; P Baybayan; E Y Chen; R Huber; G Neri; A Cao; A Forabosco; D Schlessinger Journal: Nat Genet Date: 1996-03 Impact factor: 38.330
Authors: P Lapunzina; I Badia; C Galoppo; E De Matteo; P Silberman; A Tello; J Grichener; R Hughes-Benzie Journal: J Med Genet Date: 1998-02 Impact factor: 6.318
Authors: D F Cano-Gauci; H H Song; H Yang; C McKerlie; B Choo; W Shi; R Pullano; T D Piscione; S Grisaru; S Soon; L Sedlackova; A K Tanswell; T W Mak; H Yeger; G A Lockwood; N D Rosenblum; J Filmus Journal: J Cell Biol Date: 1999-07-12 Impact factor: 10.539