A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation.
Succinate Dehydrogenase-B (SDH-B) gene mutations constitute one of the most frequent forms of hereditary paragangliomas (PGL). Genetic study is advised in all cases for the evaluation of tumour behaviour, the selection of optimal management and the surveillance of the first degree relatives. There are limited data on the genetic characteristics of patients with PGLs from Middle East countries, and to our knowledge this is the first study from Iran. We present the clinical and genetic characteristics of a 29-year old woman who presented with hypertension secondary to a para-aortic PGL. She was shown to have a novel mutation in the SDH-B gene and her family was subsequently screened. We also emphasize the problems in diagnosing and treating patients in this region.
Ali A
AA
Ghazi
Ali Mosaddegh
AM
Khah
Fereshteh
F
Kamani
Khandan
K
Zare
Alireza
A
Sadeghipour
Mehdi
M
Hedayati
Marjan Zarif
MZ
Yeganeh
Treena
T
Cranston
Ashley
A
Grossman
D000328:Adult; D001011:Aorta / Q000473:pathology; D003241:Consanguinity; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007492:Iran; D008198:Lymph Nodes / Q000473:pathology; D010235:Paraganglioma / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013385:Succinate Dehydrogenase / Q000235:genetics*
C108095:SDHB protein, human; D013385:Succinate Dehydrogenase