Question

1.If mother and father are negative for SDHB variant then who is at risk in the family?

2. If only one of the parents is positive then who is at risk in the family?

Answer 1

1, The hereditary paraganglioma- pheochromocytoma ( PGC/PCC) syndrome tested by family history,physical examination, imaging studies, biochemical testing, and molecular genetic testing.. succinate dehydrogenase (SDH) genes has pathogenic variants..many individuals with a hereditary PGC/PCC syndrome may present with a solitary tumor of the skull,base of the neck,thorax, abdomen, adrenal or pelvis and no family history of the disorder that is simplex cases..

But in family both parents are negative for SDHB variant then the family 50% risk offspring inherited disease.. distance relatives like uncle,aunt,sister,brother their parents are at risk for SDHB mutation.

2, if any one either father or mother is positive then there is a chance on pass a SDHB mutation to your son and daughter..