PMC10427865_01
(A) The 24 weeks ultrasound of the fetus showed bilateral MV. (B) The 32 weeks ultrasound of the fetus showed a normal high value of bilateral ventricles. (C) Sanger sequencing validated the novel de novo likely pathogenic variant of POU3F3 in the fetus and healthy parents. (D) In all, 23 POU3F3 variants were recorded in HGMD up to February 2023. One variant was the gross deletion of the entire POU3F3, which is not in (D). Black, truncating variants; bold black, the variant in this study; red, missense variants; green, inframe deletion.
fped-11-1177137-g001.jpg
PMC10427865_02_fped-11-1177137-g001.jpg
F1
During the follow-up, fetal ultrasound (32 weeks) showed a normal high value of bilateral ventricles (left: 9.5 mm, and right: 9.8 mm) and a right choroid plexus cyst (Figure 1B).
PMC10427865_02
(A) The 24 weeks ultrasound of the fetus showed bilateral MV. (B) The 32 weeks ultrasound of the fetus showed a normal high value of bilateral ventricles. (C) Sanger sequencing validated the novel de novo likely pathogenic variant of POU3F3 in the fetus and healthy parents. (D) In all, 23 POU3F3 variants were recorded in HGMD up to February 2023. One variant was the gross deletion of the entire POU3F3, which is not in (D). Black, truncating variants; bold black, the variant in this study; red, missense variants; green, inframe deletion.
fped-11-1177137-g001.jpg
PMC10427865_02_fped-11-1177137-g001.jpg
F1
During the follow-up, fetal ultrasound (32 weeks) showed a normal high value of bilateral ventricles (left: 9.5 mm, and right: 9.8 mm) and a right choroid plexus cyst (Figure 1B).