PMC3535201_01
Radiographic findings. (A) Lateral view of the spine showing vertebral dysplasia, with ovoid or round vertebral bodies. (B) Posteroanterior views of the hand and wrist showing widening of the metacarpals and the proximal ends of the phalanges.
alm-33-75-g001.jpg
PMC3535201_01_alm-33-75-g001.jpg
F1
Lateral view of the spine showed vertebral dysplasia with ovoid-shaped vertebral bodies, without the evidence of vertebral breaking (Fig. 1A). Radiographs of both hands revealed widening of the metacarpals and the proximal ends of the phalanges (Fig. 1B).
PMC3535201_02
PMC3535201_03
PMC3535201_04
Direct sequencing of the HGSNAT gene. The patient was a compound heterozygote for c.234+1G>A and c.1150C>T (p.Arg384*).. Abbreviation: HGSNAT, heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase.
alm-33-75-g002.jpg
PMC3535201_04_alm-33-75-g002.jpg
F2
T at the 1150th base of the 12th exon to T and leads to the substitution of arginine with a premature termination codon (p.R384*). These nonsense and splice site mutations have both been reported previously (Fig. 2).