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J Endocrinol Invest ; 32(2): 111-4, 2009 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19411806

RESUMEN

In the last few years several papers have reported on the association between mutations of the genes encoding the structural (SDHC, SDHD) and catalytic (SDHB) subunits of succinate dehydrogenase and the occurrence of hereditary pheochromocytomas/paragangliomas (Pheo/PGL) syndromes. We diagnosed a malignant extraadrenal Pheo in a 38-yr-old man with abdominal lesions; many areas of increased uptake at octreoscan scintigraphy in the skeleton indicated metastatic disease. We then approached genetic analysis through the screening of the SDHB, SDHC, and SDHD genes. Here we report a heterozygous G>A transversion at position +1 of intron 4 of SDHB gene. To clarify this mutation we performed cDNA analysis by RT-PCR and we assume that the splice site mutation in intron 4 abolishes the consensus splice donor sequence leading to an in-frame deletion of 18 amino acid. This finding indicates once again that SDHB mutations could predispose to malignant Pheo.


Asunto(s)
Neoplasias Abdominales/genética , Feocromocitoma/genética , Succinato Deshidrogenasa/genética , 3-Yodobencilguanidina , Adulto , Secuencia de Bases , Resultado Fatal , Femenino , Eliminación de Gen , Humanos , Masculino , Datos de Secuencia Molecular , Metástasis de la Neoplasia , Linaje , Feocromocitoma/diagnóstico por imagen , Feocromocitoma/patología , Cintigrafía , Somatostatina/análogos & derivados
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