PMC9662688_01
(A): Enlarged bladder with the diameter of 12 mm, (B) right multicystic kidney, (C) left hydronephrosis with the width of 4 cm, (D) cleft palate, (E) and (F)cleft lip.
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F1
The ultrasound showed a normal nuchal translucency (NT = 1.3 mm) and an enlarged bladder with the diameter of 12 mm (Figure 1A). At 22 weeks, the routine fetal anomaly scan showed multiple structural abnormalities including the right multicystic kidney, left hydronephrosis, and cleft lip and palate (Figures 1B-F).
(A) Fetal appearance, (B) cleft lip and palate, (C) right renal dysplasia, and (D) hydronephrosis of the left kidney.
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F2
No ectrodactyly or lobster-claw deformity was observed (Figure 2A). External examination showed no positive signs of ectodermal dysplasia (sparse hair, nail dysplasia, abnormal teeth, lacrimal duct obstruction, sweat gland dysplasia, etc.,) and was consistent with the gestational age of the fetus (Figure 2A). The autopsy confirmed bilateral cleft lip and palate (bilateral cleft lip, alveolar cleft, and complete cleft palate), right renal dysplasia, and hydronephrosis of the left kidney (Figures 2B-D).
Genetic findings from the family. (A) Pedigree of the family with segregation of the identified TP63 mutation. The square represents male, and circles represent female. The filled symbol indicates the affected individual. (B) Variation of c.1027C > T is a de novo missense mutation (R304W) identified in the proband. The parents were tested and did not carry the mutation. Blue lines indicate the point mutation.
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F3
The trio whole-exome sequencing (WES) was then performed, and a de novo missense mutation (c.1027C > T R304W) was detected in exon 8 of the TP63 gene (Figure 3A). Sanger sequencing confirmed this conclusion (Figure 3B).