Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defect.
The goal of our study was to identify potential pathogenic mutations in the TDGF1 gene in Chinese people with isolated CHD, particularly those with VSD, and to provide further insight into the etiology of CHD. A total of 500 CHD Chinese patients were investigated for mutations in the TDGF1 gene. Thirteen variants were found among the 500 isolated VSD patients and 250 controls, including one non-synonymous variant identified in patients but not in controls. This work firstly provides human genetic evidence of TDGF1 involved in the pathogenesis of VSD, expanding our knowledge of the causative mutations of congenital heart defects, in particular, the causative mutations of VSD.
Wang
Binbin
B
Yan
Jinting
J
Peng
Zuoqi
Z
Wang
Jing
J
Liu
Shiguo
S
Xie
XiaoDong
X
Ma
Xu
X
D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D004815:Epidermal Growth Factor / Q000235:genetics*; D058851:GPI-Linked Proteins; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D006345:Heart Septal Defects, Ventricular / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D015995:Prevalence
D058851:GPI-Linked Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D009363:Neoplasm Proteins; C070636:TDGF1 protein, human; D004815:Epidermal Growth Factor