The first Dutch SDHB founder deletion in paraganglioma -pheochromocytoma patients

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• 作者：Jean-Pierre Bayley (1)
  Anneliese EM Grimbergen (2)
  Patrick A van Bunderen (2)
  Michiel van der Wielen (2)
  Henricus P Kunst (3)
  Jacques W Lenders (5)
  Jeroen C Jansen (3)
  Robin PF Dullaart (6)
  Peter Devilee (1)
  Eleonora P Corssmit (4)
  Annette H Vriends (2)
  Monique Losekoot (2)
  Marjan M Weiss (2)
  
• 刊名：BMC Medical Genetics
• 出版年：2009
• 出版时间：December 2009
• 年：2009
• 卷：10
• 期：1
• 全文大小：1328KB
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  33. The pre-publication history for this paper can be accessed here:f="http://www.biomedcentral.com/1471-2350/10/34/prepub" class="a-plus-plus">http://www.biomedcentral.com/1471-2350/10/34/prepub
  
• 作者单位：Jean-Pierre Bayley (1)
  Anneliese EM Grimbergen (2)
  Patrick A van Bunderen (2)
  Michiel van der Wielen (2)
  Henricus P Kunst (3)
  Jacques W Lenders (5)
  Jeroen C Jansen (3)
  Robin PF Dullaart (6)
  Peter Devilee (1)
  Eleonora P Corssmit (4)
  Annette H Vriends (2)
  Monique Losekoot (2)
  Marjan M Weiss (2)
  
  1. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
  2. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  3. Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands
  5. Department of Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  6. Department of Endocrinology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands
  4. Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
  
• ISSN：1471-2350

文摘

Background Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH), the mitochondrial tricarboxylic acid cycle enzyme and complex II component of the electron transport chain. The majority of variants of the SDH genes are missense and nonsense mutations. To date few large deletions of the SDH genes have been described. Methods We carried out gene deletion scanning using MLPA in 126 patients negative for point mutations in the SDH genes. We then proceeded to the molecular characterization of deletions, mapping breakpoints in each patient and used haplotype analysis to determine whether the deletions are due to a mutation hotspot or if a common haplotype indicated a single founder mutation. Results A novel deletion of exon 3 of the SDHB gene was identified in nine apparently unrelated Dutch patients. An identical 7905 bp deletion, c.201-4429_287-933del, was found in all patients, resulting in a frameshift and a predicted truncated protein, p.Cys68HisfsX21. Haplotype analysis demonstrated a common haplotype at the SDHB locus. Index patients presented with pheochromocytoma, extra-adrenal PGL and HN-PGL. A lack of family history was seen in seven of the nine cases. Conclusion The identical exon 3 deletions and common haplotype in nine patients indicates that this mutation is the first Dutch SDHB founder mutation. The predominantly non-familial presentation of these patients strongly suggests reduced penetrance. In this small series HN-PGL occurs as frequently as pheochromocytoma and extra-adrenal PGL.