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Simpson– G olabi– B ehmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC 3 Gene
Author(s) -
Mateos María Elena,
Beyer Katrin,
LópezLaso Eduardo,
Siles Juan López,
PérezNavero Juan Luis,
Peña María José,
Guzmán Juana,
Matas Juliana
Publication year - 2013
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.35738
Subject(s) - gene duplication , exon , tandem exon duplication , hepatoblastoma , gene , genetics , mutation , biology , germline , medicine
Mutations in the gene encoding glypican ( GPC ) 3 appear to be responsible for most cases of Simpson–Golabi–Behmel syndrome type 1. Duplication of the GPC4 gene has also been associated to this syndrome; however, no duplications involving GPC3 have been related. We describe a family that harbors a novel exon 2–4 duplication event leading to a truncating germline mutation of the GPC3 gene that, to our knowledge, has not been previously reported. GPC3 transcripts that carry this duplication bear non‐functional proteins making its pathogenic role highly probable. The absence of a functional GPC3 may alter the normal differentiation of embryonal mesodermal tissues predisposing to the development of embryonal tumors, as the index case studied who developed a hepatoblastoma at age 9 months. © 2013 Wiley Periodicals, Inc.