title: [Familial paraganglioma syndrome: phenotype and relevance of a new SDHB mutation].
abstract: OBJECTIVE
  Advances in molecular biology have discovered new genes involved in the development of familial paraganglioma syndrome (PGL) including those encoding mitochondrial succinate dehydrogenase complex (SDH). We describe the diagnosis, clinical expression and genetic counselling in a family diagnosed of PGL due to a new SDHB mutation.
  
  
  METHODS
  Genetic study by PCR-direct sequencing SDHB gene and biochemical determination in blood/urine fractionated catecholamine 24h, metanephrines and conventional (computed tomography/magnetic resonance imaging) and functional imaging ((123)I-MIBG) in all members of a family diagnosed of PGL.
  
  
  RESULTS
  DNA sequencing showed a non-described SDHB heterozygous mutation (c.287-3C>G intron3/exon4) in 5 of the subjects (71%). The estimated penetrance of the mutation's carriers was 40%, with a mean age of 35 years at diagnosis. All patients with active illness required surgical treatment after imaging and laboratory confirmation.
  
  
  CONCLUSIONS
  We describe the pathogenicity, diagnostic algorithm, genetic counselling and clinical expression of a new SDHB mutation (c.287-3C>G) in a family diagnosed of PGL.
authors: Servicio de Endocrinología y Nutrición, Hospital Clínico y Universitario de Valladolid, IEN-UVa, Valladolid, España. diazsotogonzalo@gmail.com
authors: Gonzalo
authors: G
authors: Díaz-Soto
authors: Almudena
authors: A
authors: Serrano Morte
authors: Cristina
authors: C
authors: Rodríguez Martín
authors: Paloma
authors: P
authors: García-Talavera
authors: Carlos M
authors: CM
authors: Abril
authors: Manuel
authors: M
authors: Puig-Domingo
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D002395:Catecholamines / Q000652:urine; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D006973:Hypertension / Q000209:etiology; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009386:Neoplastic Syndromes, Hereditary / Q000201:enzymology / Q000235:genetics* / Q000652:urine; D010235:Paraganglioma / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010673:Pheochromocytoma / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics / Q000601:surgery / Q000652:urine; D012186:Retroperitoneal Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics / Q000601:surgery / Q000652:urine; D013385:Succinate Dehydrogenase / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon; D014642:Vanilmandelic Acid / Q000652:urine; D055815:Young Adult
chemical_list: D002395:Catecholamines; D014642:Vanilmandelic Acid; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase; D006719:Homovanillic Acid