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http://purl.uniprot.org/citations/17576205http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Background

SDHD germ-line mutations predispose to pheochromocytoma (PCC) and paraganglioma (PGL).

Material and methods

The incidence and types of SDHD germ-line mutations are determined in 70 patients with apparently sporadic adrenal and extra-adrenal PCC.

Results

SDHD sequence variants were identified in the germ line of five patients. Two of three novel mutations were in exon 1 and one in exon 3. One patient had a codon 1 missense mutation (M1K) and a concurrent 3-bp deletion in intron 1. Three of 10 family members had only the exon 1 mutation, whereas one had only the intron 1 mutation. The other exon 1 mutation resulted from a deletion of nucleotides 28-33 with a 12-bp in-frame insertion (c.28_33 del ins TAGGAGGCCCTA). This mutation generated a premature stop codon after codon 9 and was also present in the brother who had a bilateral PCC. The third patient with a carotid body tumour, with an abdominal and a thoracic PGL had a 12-bp deletion in exon 3 (codons 91-94, c.271_282 del). Her father carried the same mutation and had bilateral carotid body tumours. Two further patients, one with six PGL, carried a previously described H50R polymorphism, whose disease-specific relevance is currently unclear. The three patients with bona fide SDHD mutations were younger than those without germ-line mutations.

Conclusion

SDHD germ-line mutations are rare in patients with PCC, but their identification is an important prerequisite for the clinical care and appropriate management of affected individuals and their families."xsd:string
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http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/author"Moritz A."xsd:string
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/author"Haas O.A."xsd:string
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/author"Niederle B."xsd:string
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http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/author"Weinhausel A."xsd:string
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/name"Eur J Clin Invest"xsd:string
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/pages"544-551"xsd:string
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/title"Novel SDHD germ-line mutations in pheochromocytoma patients."xsd:string
http://purl.uniprot.org/citations/17576205http://purl.uniprot.org/core/volume"37"xsd:string
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