Expanding the prenatal phenotype and mutantspectrum associated with THOC6 variants

Abstract

Objective: We present the first case of a THOC6 variant with a prenatal clinical phenotype of double-outlet right ventricle. Case report: The fetus in this case presented with a double-outlet right
ventricle. Two compound heterozygous variations for the THOC6 gene (NM_024339.5), neither of which has been reported, (exon12: c.826C>T:p. Q276* and exon3:c.178G>T:p.E60*), were identified by exome sequencing in the pre-documented individuals. Conclusion: This case extends the variant spectrum and clinical characteristics of the THOC6 gene. It suggests that the double-outlet right ventricle may be a prenatal clinical feature caused by this gene variant. Fetal cardiac ultrasound can be used as an early screening method for these diseases, and it highlights the importance of prenatal whole-exome sequencing technology in elucidating prenatal diagnosis and prognosis.