PMC5895704_01
Assessment of the clinical symptoms of the patient. (A) X-ray image illustrating destruction of carpal bones. Absence of carpal bones and osteolysis of proximal end of metacarpal bones, and bones of the elbow joints with pathological dislocation of both elbow joints (B) Computed tomography scan (CT) illustrating kidney asymmetry. Please note the hypoplasia of the right kidney, and compensatory hypertrophy of the left kidney, and scoliosis dextroconvexa lumbalis and spina bifida of the lumbosacral vertebra (see also Supplementary Figure 1B).
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F1
She did not show signs of intellectual disability; morphological abnormalities were absent in her parents (Figure 1; Supplementary Figures 1, 2). At 13 years of age, her radiological examination showed osteolysis of carpal bones, destruction of the elbow joints with pathological dislocation of both elbows, osteolysis of the tarsal bones and first metatarsal with pathological dislocation of the first metatarsophalangeal joints, and cyst-like structures on the right femoral epiphysis (Figure 1A; Supplementary Figures 1, 2). Computed tomography (CT) scan confirmed the ultrasound findings (Figure 1B).
Trio clinical exome sequencing. (A) A screen shot taken from the Genoox platform, showing the detection and annotation of de novo c.188C>T (p.Pro63Leu) mutation in the MAFB gene. (B) IGV genome browser screenshot of reads obtained by NGS. Detection of the c.188C>T (p.Pro63Leu) in the MAFB gene in the proband (upper panel), and its absence in the father, and mother (middle and lower panel).
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F2
She did not show signs of intellectual disability; morphological abnormalities were absent in her parents (Figure 1; Supplementary Figures 1, 2). At 13 years of age, her radiological examination showed osteolysis of carpal bones, destruction of the elbow joints with pathological dislocation of both elbows, osteolysis of the tarsal bones and first metatarsal with pathological dislocation of the first metatarsophalangeal joints, and cyst-like structures on the right femoral epiphysis (Figure 1A; Supplementary Figures 1, 2).