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GENATLAS PHENOTYPE
last update : 08-11-2016
Symbol PGL4
Location 1p36.13
Name hereditary paraganglioma 4
Corresponding gene SDHB
Main clinical features
  • hereditary susceptibility to PGL
  • development of slow-growing, highly vascular, generally benign neoplasms, usually of the head and neck with the carotid body as the major tumor site, neuroectodermal origin
  • rare tumours that derive from minute, diffuse paraganglionic tissues which are located internally and centrally around the major arteries, nerves, within organs and distributed from the skull base to the pelvic floor (Baysal 2008)
  • pheochromocytoma, multiple catecholamine-secreting head and neck paragangliomas and retroperitoneal pheochromocytomas, carotid body tumors and multiple extraadrenal pheochromocytomas
  • succinate dehydrogenase complex B deficiency
  • Genetic determination autosomal dominant
    Prevalence 20p 100 of all paraganglioma
    Function/system disorder endocrinology
    neoplasia
    Type susceptibility factor
    Gene product
    Name B subunit of the mitochondrial succinate dehydrogenase complex II
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
    deletion     of exon 1 in Iberian Peninsular people, probably due to a founder effect
    Remark(s)
  • hereditary susceptibility to familial paraganglioma syndromes is mainly due to mutations in one of six genes, including three of the four genes encoding the subunits of the mitochondrial succinate dehydrogenase complex II
  • Genotype/Phenotype correlations
  • features of SDHB mutation-associated disease include a later age of onset, extraadrenal (abdominal or thoracic) tumors, and a higher rate of malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas
  • In contrast, SDHD mutation carriers, in addition to head and neck paragangliomas, should be observed for multifocal tumors, infrequent malignancy, and the possibility of extraadrenal pheochromocytoma