Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene.
Am J Med Genet A
; 161A(5): 1091-5, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23463737
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Arritmias Cardíacas
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Hepatoblastoma
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Enfermedades Genéticas Ligadas al Cromosoma X
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Glipicanos
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Gigantismo
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Cardiopatías Congénitas
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Neoplasias Hepáticas
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
España