SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma
Open Access
- 15 January 2011
- journal article
- Published by American Association for Cancer Research (AACR) in Clinical Cancer Research
- Vol. 17 (2), 247-254
- https://doi.org/10.1158/1078-0432.ccr-10-0420
Abstract
Purpose: Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits. We recently described mutations in a previously uncharacterized human gene, now called SDHAF2, and showed that this was the long-sought “imprinted” PGL2 gene. Here, we present a new branch of the Dutch SDHAF2 (PLG2-SDH5) family.Keywords
This publication has 27 references indexed in Scilit:
- SDHA is a tumor suppressor gene causing paragangliomaHuman Molecular Genetics, 2010
- SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in ParagangliomaScience, 2009
- Clinical aspects of SDHx-related pheochromocytoma and paragangliomaEndocrine-Related Cancer, 2009
- The H19 locus acts in vivo as a tumor suppressorProceedings of the National Academy of Sciences of the United States of America, 2008
- ParagangliomasAnnals of the New York Academy of Sciences, 2006
- What we call them: the nomenclature of head and neck paragangliomasClinical Otolaryngology, 2006
- Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma SyndromesJournal of Clinical Endocrinology & Metabolism, 2006
- National Cancer Data Base report on malignant paragangliomas of the head and neckCancer, 2002
- Glomus tumours and genomic imprinting: Influence of inheritance along the paternal or maternal lineClinical Otolaryngology, 1997
- Familial and bilateral tumours of the carotid bodyThe Journal of Pathology and Bacteriology, 1933