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. 2015 Feb 5;96(2):266–274. doi: 10.1016/j.ajhg.2014.11.019

Figure 1.

Figure 1

Families Affected by DDX58 Mutations

(A) Pedigree of family A, affected by the c.1118A>C (p.Glu373Ala) DDX58 mutation. An asterisk indicates that exome sequencing was performed.

(B) Pedigree of family B, affected by the c.803G>T (p.Cys268Phe) DDX58 mutation.

(C) Computed tomographic angiography shows aortic calcification (black arrowheads) and calcification of the aortic valves (white arrowheads) in II:6 (left) and III:7 (right) of family A.

(D) Orthopantomograms of II:6 (upper) and III:7 (lower) of family A. These subjects show no dental anomalies except mild dental caries.

(E) Photographs of both eyes of family A individual III:7, who was diagnosed with glaucoma at 3 years of age, show severe optic nerve head cupping (upper left and right). Iris defects due to surgical iridectomy, which was performed with filtering surgeries and additional subsequent bilateral glaucoma implant surgeries, are visible (lower left and right).

(F) Skeletal findings in the affected families. In family A (FA), foot radiographs of III:2 at age 33 years and his son (IV:3) at age 8 years show acro-osteolysis of the distal phalanges and the resulting triangular shape of the great toes (arrows). Hand radiographs of the son (IV:3) and daughter (IV:4, age 5 years) also reveal erosive changes of the terminal tufts and the resulting hypoplastic appearance of all distal phalanges. Carpal bone ossification is delayed in IV:3, who is approximately 3–4 years of age. Expanded medullary cavities of the metacarpals and metatarsals are not evident in any affected member of family A. In family B (FB), the foot radiograph of II:4 at age 61 years shows marked subluxation of the hallux, erosions, and acro-osteolysis of the distal phalanges and the resulting short toes (upper). Note the similar but lesser degree of erosive changes of the distal phalanges, which show a triangular shape of the great toe, in III:2 of family B (upper, arrow). In the hand radiographs of II:4 and III:2 of family B, note the severe acro-osteolysis of the distal phalanges and flexion contractures of II:4 and mild erosive changes of the distal phalanges in III:2. The medullary cavities of the metatarsals and metacarpals are also not widened in this family.