Identification of SDHD c.170-1G>T variant in pedigree affected with carotid body tumor.

Author: Hong LIU ¹ ; Jingqiu ZHANG ; Feng XU ; Hui LIU ; Kuiling SHEN ; Shaogang MA
Author Information

1. Outpatient Infusion Room, Huai'an Second People's Hospital, Huai'an, Jiangsu 223002, China. mashaogang@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(6):673-676
CountryChina
Language:Chinese
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.