Background Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in thePDE3Agene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. Case presentation Whole-exome sequencing was performed in an 18-year-old female proband with a clinical diagnosis of hypertension with brachydactyly syndrome. Quantitative real-time PCR was used to identify pathogenic copy number variations (CNVs). After bioinformatics analysis and healthy control database filtering, we revealed a heterozygous missensePDE3Avariant (c.1346G > A, p.Gly449Asp). The variant was absent in the ExAC database and located in a highly evolutionarily conserved cluster of reportedPDE3Apathogenic variants. Importantly, this variant was predicted to affect protein function by both SIFT (score = 0) and PolyPhen-2 (score = 1). After Sanger sequencing, the variant was determined to be absent in the healthy parents of the proband as well as 800 ethnically and geographically matched healthy controls. Conclusion We present a report linking a de novoPDE3Avariant to autosomal dominant hypertension with brachydactyly type E syndrome.
基金：
National Natural Science Foundation of China [81700413, 8157020983]; National Key RAMP;D Program of China [2017YFC0909400]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Div Cardiol,Dept Internal Med, Wuhan, Peoples R China[2]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Genet Diag Ctr, Wuhan, Peoples R China[3]Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan, Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Div Cardiol,Dept Internal Med, Wuhan, Peoples R China[2]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Genet Diag Ctr, Wuhan, Peoples R China[3]Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan, Peoples R China[4]Nanjing Med Univ, Affiliated Hosp 1, Ctr Clin Reprod Med, State Key Lab Reprod Med, 300 Guangzhou Rd, Nanjing 210029, Jiangsu, Peoples R China[5]Nanjing Med Univ, Affiliated Hosp 1, Dept Cardiol, 300 Guangzhou Rd, Nanjing 210029, Jiangsu, Peoples R China
推荐引用方式(GB/T 7714)：
Li Xianqing,Li Zongzhe,Chen Peng,et al.Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report[J].BMC MEDICAL GENETICS.2020,21(1):doi:10.1186/s12881-020-01077-z.
APA：
Li, Xianqing,Li, Zongzhe,Chen, Peng,Wang, Yan,Wang, Dao Wen&Wang, Dao Wu.(2020).Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.BMC MEDICAL GENETICS,21,(1)
MLA：
Li, Xianqing,et al."Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report".BMC MEDICAL GENETICS 21..1(2020)
