PMC9631024_01
Sanger sequencing of the trios confirmed the JAG1 variant. (A) Patient 1: heterozygous nonsense mutation (NM_000214 exon20, c.2419G > T, p.E807Ter), which was a spontaneous mutation. (B) Patient 2: heterozygous frameshift mutation (NM_000214 exon19, c.2367-2368dupTC, p.P790Lfs*31), which was inherited from his mother.
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F2
A frameshift variant in JAG1 gene (NM_000214 exon19, c.2367-2368dupTC, p.P790Lfs*31) was identified by cholestasis-related gene sequencing (Figure 2B).
(A) Facial features of patient 2. (B) 3D reconstruction of the aorta showing stenosis of the descending aortic arch. (C) Laparoscopic cholangiogram shows a visualization of the intrahepatic bile ducts. (D) HE staining reveals interlobular arteries and veins with absent bile ducts.
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F3
He has a triangular-shaped face with a prominent forehead, hypertelorism, deep-set eyes, a pointed chin, and a bulbous nasal tip (Figure 3A). CTA, 3D reconstruction: narrowed descending aortic arch (internal diameter about 4.2 mm) (Figure 3B). The contrast showed tiny intrahepatic bile ducts (Figure 3C). Pathology showed interlobular arteries and veins with absence of bile ducts (Figure 3D).
PMC9631024_02