PMC6036836_01
(a) Pedigree of the family of the proband. (b) Facial clinical characteristics of the proband. Note the triangular face, wide forehead, and prominent chin. (c) Deep-set eyes. (d) Altered liver function analysis. (e) X-ray analysis showing butterfly-like dorsal vertebra (white arrow). (f) Capillary sequencing analysis demonstrating the mutation in the proband. (g) Wild-type sequence in one of the parents.
CRIG2018-1369413.001.jpg
PMC6036836_01_CRIG2018-1369413.001.jpg
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The proband is a 2-year and 7-month-old Mexican mestizo male (Figure 1(a), individual III.2). He had sparse eyebrows, a broad forehead, deep-set eyes, a triangular face, prominent ears, a heart murmur, hepatomegaly, and hypotrophic limbs (Figures 1(b) and 1(c)). His liver function tests were abnormal (Figure 1(d)) and an abdominal ultrasound analysis demonstrated generalized thickening of the biliary tract. The X-ray analysis showed a butterfly-like image in several dorsal vertebrae (Figure 1(e)). This causes a frameshift mutation and a premature stop codon at amino acid number 72 of the JAGGED1 protein (Figure 1(f)). Capillary sequencing was carried out in our laboratory and confirmed the presence of the mutation, which was not found in the parents (Figure 1(g)).