Identification of SDHD c.170-1G>T variant in pedigree affected with carotid body tumor / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a pedigree affected with carotid body tumor (CBT).@*METHODS@#Members of the pedigree were enrolled and underwent physical examination, ultrasonography and CT scan. Genomic DNA of the proband was extracted from peripheral blood sample and subjected to exome sequencing. Candidate variants were predicted using bioinformatic tools and verified among members from his pedigree.@*RESULTS@#A c.170-1G>T splicing variant of the SDHD gene was detected in 15 individuals from the pedigree. Physical examination and imaging confirmed that 9 of them had CBT and hypertension, while the remaining 6 died of cardiovascular and cerebrovascular diseases.@*CONCLUSION@#The c.170-1G>T variant of the SDHD gene probably underlies the CBT in this pedigree. Genetic testing should be considered for CBT patients with CBT in addition to conventional clinical examination.