PMC9890166_01
(A) the pedigree of this family. Black indicates the affected fetus with CD. White circles are unaffected. Arrow indicates the proband. (B) Short femurs. (C) Detached right renal pelvis. (D) Foot varus. (E) Short and curved femurs (<2.5%). (F) Shorted humerus (<5%). (G) Thickened neck fold (>6 mm). (H) Micrognathia.
fped-10-1089194-g001.jpg
PMC9890166_01_fped-10-1089194-g001.jpg
F1
The initial fetal ultrasonography revealed abnormal long bones in both lower extremities, mild hydronephrosis with detached right renal pelvis, and varus in both feet (Figures 1A-C). Typical pot-shaped external genitalia was observed in the fetus (Figures 1E-G).
Genetic description of the Chinses family. (A) Sequencing results of the SOX9 mutation. Sequence chromatograms indicate the heterozygosity of the SOX9 non-sense mutation (NM_000346.3; c.1249C > T; p.Q417*) in the fetus and in the normal parents. Black arrow indicates the mutation site. (B) Alignment analysis of this site (p.G285) in COL4A4 amino acid sequences shows that the site (p.417) is highly conserved.
fped-10-1089194-g002.jpg
PMC9890166_01_fped-10-1089194-g002.jpg
F2
After data filtering, a novel mutation of SOX9 (NM_000346.3; c.1249C > T; p.Q417*) was highly suspected to be the genetic lesion in the fetus (Figure 2A). Otherwise, this novel mutation (c.1249C > T; p.Q417*) was located at a highly evolutionarily conserved site of the SOX9 protein (Figure 2B).