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GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome
Author(s) -
Sakazume Satoru,
Okamoto Nobuhiko,
Yamamoto Toshiyuki,
Kurosawa Kenji,
Numabe Hironao,
Ohashi Yuko,
Kako Yuko,
Nagai Toshiro,
Ohashi Hirohumi
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31822
Subject(s) - exon , genetics , intron , mutation , biology , genomic dna , base pair , stop codon , microbiology and biotechnology , phenotype , gene
We analyzed mutations of the GPC3 gene in seven males with typical manifestations of Simpson–Golabi–Behmel syndrome (SGBS). Genomic DNA was PCR amplified for its all eight exons and exon–intron boundaries using designed set of primers, and PCR products were directly sequenced. All seven males studied had mutations: One patient had a large deletion spanning introns 6 and 7, four each had a C → T base substitution resulting in a stop codon formation in exons 2, 3, and 4, one had a single‐base insertion in exon 2, and the other had a six‐base deletion and a three‐base insertion in exon 3; all resulting in loss‐of‐function of the glypican‐3 protein. These results, together with previous studies of GPC3 mutations, indicate that there is no hot spot for GPC3 mutations or deletions in the patients with the syndrome. Also, no correlation has been noted between the location and nature of mutations and the phenotype of the patients studied, as is the case of the present study. © 2007 Wiley‐Liss, Inc.