PMC3654842_01
Clinical pictures showing photos of ocular gazes in proband III:1 (A: Four-year-old boy), II-2 (B. his mother) and I-1 (C. his grandfather). All shared similar features with limitation in right sided abduction, upshooting or downshooting of right eye with narrowing of palpebral fissure on attempted adduction gaze.
mv-v19-986-f2.jpg
PMC3654842_02_mv-v19-986-f2.jpg
f2
She had right-sided DRS (Figure 2B) and left preaxial duplication of the thumb. Their grandfather (I:1), a 72-year-old man, had a similar clinical presentation as his daughter (II:2; Figure 2C and Figure 3D).
Phenotypic features of patients. A: A 4-year-old boy (III:1) with left hand scar at thenar prominence at the site of previous surgery to excise of duplication of thumb. B: A 6-month-old girl (III:2) has no signs of limb malformations. C: A 36-year-old woman (II:2) with residual signs of a previous extra left thumb , and left thenar hypoplasia and hypoplasia of thumb. D: A 60-year-old man (I:1) with residual incomplete excision of an extra right thumb.
mv-v19-986-f3.jpg
PMC3654842_02_mv-v19-986-f3.jpg
f3
Physical examination showed no signs of upper limb malformations (Figure 3B). Additional features including hypoplasia of the thenar muscle and hypoplasia of the left thumb were also noted (Figure 3C). Their grandfather (I:1), a 72-year-old man, had a similar clinical presentation as his daughter (II:2; Figure 2C and Figure 3D).
PMC3654842_02
Clinical pictures showing photos of ocular gazes in proband III:1 (A: Four-year-old boy), II-2 (B. his mother) and I-1 (C. his grandfather). All shared similar features with limitation in right sided abduction, upshooting or downshooting of right eye with narrowing of palpebral fissure on attempted adduction gaze.
mv-v19-986-f2.jpg
PMC3654842_02_mv-v19-986-f2.jpg
f2
She had right-sided DRS (Figure 2B) and left preaxial duplication of the thumb. Their grandfather (I:1), a 72-year-old man, had a similar clinical presentation as his daughter (II:2; Figure 2C and Figure 3D).
Phenotypic features of patients. A: A 4-year-old boy (III:1) with left hand scar at thenar prominence at the site of previous surgery to excise of duplication of thumb. B: A 6-month-old girl (III:2) has no signs of limb malformations. C: A 36-year-old woman (II:2) with residual signs of a previous extra left thumb , and left thenar hypoplasia and hypoplasia of thumb. D: A 60-year-old man (I:1) with residual incomplete excision of an extra right thumb.
mv-v19-986-f3.jpg
PMC3654842_02_mv-v19-986-f3.jpg
f3
Physical examination showed no signs of upper limb malformations (Figure 3B). Additional features including hypoplasia of the thenar muscle and hypoplasia of the left thumb were also noted (Figure 3C). Their grandfather (I:1), a 72-year-old man, had a similar clinical presentation as his daughter (II:2; Figure 2C and Figure 3D).
Magnetic resonance imaging of the brain of proband III:2. The thin linear structure coursing obliquely from the left pontomedullary region in the left pontine cistern suggests the left abducens nerve, which was absent in the right side.
mv-v19-986-f4.jpg
PMC3654842_02_mv-v19-986-f4.jpg
f4
MRI of the brain was normal, except the right abducens nerve was absent (Figure 4).
Sequence chromatographs of the novel heterozygous mutation c.1919dupT in SALL4 and the respective wild-type sequence.
mv-v19-986-f5.jpg
PMC3654842_02_mv-v19-986-f5.jpg
f5
A heterozygous duplication c.1919dupT (Figure 5) in exon 2 was identified exclusively in all affected family members but not in any of the unaffected family members.
Multiple alignment of the SALL4 protein sequence (partial) from different species. The box indicates that the deleted region affected by the mutation (p.Met640IlefsX25) in SALL4 was highly conserved.
mv-v19-986-f6.jpg
PMC3654842_02_mv-v19-986-f6.jpg
f6
The results showed that the affected region of SALL4 was highly conserved across species and revealed the strong identity of the deleted region of protein at SALL4 zinc finger domains (Figure 6).