Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population

As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR contro...

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Published in:Oncotarget 2017-04, Vol.8 (17), p.27812-27819
Main Authors: Li, Jun, Yang, Shiwei, Pu, Zhening, Dai, Juncheng, Jiang, Tao, Du, Fangzhi, Jiang, Zhu, Cheng, Yue, Dai, Genyin, Wang, Jun, Qi, Jirong, Cao, Liming, Cheng, Xueying, Ren, Cong, Li, Xinli, Qin, Yuming
Format: Article
Language:English
Subjects:
Activin Receptors, Type II - genetics
Adolescent
Asian Continental Ancestry Group - genetics
Case-Control Studies
Child
Child, Preschool
Computed Tomography Angiography
Echocardiography
Electrocardiography
Female
Humans
Infant
Male
Mutation, Missense
Rare Diseases - diagnostic imaging
Rare Diseases - genetics
Rare Diseases - surgery
Research Paper
Sarcoglycans - genetics
Scimitar Syndrome - diagnostic imaging
Scimitar Syndrome - genetics
Scimitar Syndrome - surgery
Whole Exome Sequencing
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Summary:As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c.C717G, p.D239E in sarcoglycan delta (SGCD). Our results offered the landscape of mutations for TAPVR in Chinese population firstly and are valuable in the mutation-based pre- and post-natal screening and genetic diagnosis for TAPVR.
ISSN:1949-2553
1949-2553
DOI:10.18632/oncotarget.15434