PMC10360024_01
PMC10360024_02
PMC10360024_03
Three-dimensional structure of the PC protein. (A) In wild-type protein, ARG-51 forms one hydrogen bond each with GLU-47 and ALA-55, and two hydrogen bonds each with GLU-337 and ASP-343. (B) Maternal mutant proteins of the variant c.1154_1155del. The frameshift mutation results in the premature termination of protein translation and the alteration of three-dimensional structure. (C) Paternal mutant protein of the variant c.152G>A. After the mutation, the hydrogen bonds are broken between HIS-51 and GLU-337 and ASP-343. The yellow dotted lines indicate hydrogen bonds. ALA, Alanine. ARG, arginine. ASP, aspartic acid. GLU, glutamic acid. HIS, histidine.
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Compared to the tertiary structure of wild-type proteins ( Figure 1A ), the c.1154_1155del mutation caused the 385th arginine to become glutamine and the 10th downstream amino acid to become termination codon, which resulted in structural change and loss of function of the protein ( Figure 1B ). Figure 1C ). Furthermore, the preimplantation genetic testing for monogenic disorders (PGT-M) can prevent the couple from having a second child with the mutant PC gene, so further verification of mutation site information in pedigree and single nucleotide polymorphism (SNP) linkage analysis were performed as displayed in  Supplementary Figures 1 ,  2 .
Representative MRI images of brain. (A) MRI images of fetal brain at different gestational ages. MRI T2 HASTE sequence, transverse view. (B) Brain MRI images of the 3-day-old newborn. MRI T2 FLAIR sequence, transverse view. The blue arrows indicate multiple subependymal cysts and the red arrows indicate enlargement of posterior horns of lateral ventricles. MRI, magnetic resonance imaging. HASTE, half-fourier acquisition single-shot turbo spin echo. FLAIR: fluid-attenuated inversion recovery.
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MRI was performed. MRI images ( Figure 2A ) displayed that long T2 signals were seen near the anterior horns and bodies of bilateral lateral ventricles, which may indicate subependymal cysts. As shown by  Figure 2B , multiple and large subependymal cysts were still visible after this patient was born, the largest of which exceeded 4cm in long diameter.
PMC10360024_04
PMC10360024_05
Representative MRI images of brain. (A) MRI images of fetal brain at different gestational ages. MRI T2 HASTE sequence, transverse view. (B) Brain MRI images of the 3-day-old newborn. MRI T2 FLAIR sequence, transverse view. The blue arrows indicate multiple subependymal cysts and the red arrows indicate enlargement of posterior horns of lateral ventricles. MRI, magnetic resonance imaging. HASTE, half-fourier acquisition single-shot turbo spin echo. FLAIR: fluid-attenuated inversion recovery.
fendo-14-1199590-g002.jpg
PMC10360024_05_fendo-14-1199590-g002.jpg
f2
MRI was performed. MRI images ( Figure 2A ) displayed that long T2 signals were seen near the anterior horns and bodies of bilateral lateral ventricles, which may indicate subependymal cysts. As shown by  Figure 2B , multiple and large subependymal cysts were still visible after this patient was born, the largest of which exceeded 4cm in long diameter.