2019
DOI: 10.1096/fasebj.2019.33.1_supplement.374.6
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Identification of Two Novel Mutations from Congenital Heart Defects and Related Cellular Function

Abstract: ObjectiveCongenital heart defects (CHD) represent the most common congenital anomaly in newborns. The causes of CHD are complex, and are not fully understood. A number of genetic studies have linked gene mutations to cardiac abnormalities. In this study, we found a child who was diagnosed as having a complex including complete endocardial cushion defect, patent ductus arteriosus, secondary atrial septal defect, severe pulmonary hypertension, and polydactyly, we aimed to identify potential pathogenic mutations … Show more

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“…Previously, a compound heterozygous and five homozygous TCTN3 variants with OFD4 have been reported in families of different ancestries (Al‐Dewik et al., 2019 ; Thomas et al., 2012 ; Yadava & Ashkinadze, 2019 ). Variants in TCTN3 have also been reported to be involved in the etiology of Joubert syndrome and congenital heart defects (Chen et al., 2019 ; Huppke et al., 2015 ). Frameshift and nonsense variants have been observed more often with OFD4, whereas missense variants are more closely associated with other disorders.…”
Section: Discussionmentioning
confidence: 99%
“…Previously, a compound heterozygous and five homozygous TCTN3 variants with OFD4 have been reported in families of different ancestries (Al‐Dewik et al., 2019 ; Thomas et al., 2012 ; Yadava & Ashkinadze, 2019 ). Variants in TCTN3 have also been reported to be involved in the etiology of Joubert syndrome and congenital heart defects (Chen et al., 2019 ; Huppke et al., 2015 ). Frameshift and nonsense variants have been observed more often with OFD4, whereas missense variants are more closely associated with other disorders.…”
Section: Discussionmentioning
confidence: 99%