PMC5444338_01
(a) Family pedigree of the affected boy. (b) Sanger sequencing showed homozygous substitution of c.71G>A in the affected boy; the parents showed a heterozygous state.
hgv201718-f1.jpg
PMC5444338_02_hgv201718-f1.jpg
fig1
His parents were found to be first-degree cousins (Figure 1). The variant was confirmed by Sanger sequencing, including for both parents (Figure 1), and the results were consistent.
The boy presented decerebrate posture with supportive ventilation at the age of 8 months (a). Facial palsy was obvious at the age of 19 months (b).
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fig2
He completely lost his vision and hearing, and was totally bed-ridden with global developmental delay (Figure 2).
PMC5444338_02
(a) Family pedigree of the affected boy. (b) Sanger sequencing showed homozygous substitution of c.71G>A in the affected boy; the parents showed a heterozygous state.
hgv201718-f1.jpg
PMC5444338_02_hgv201718-f1.jpg
fig1
His parents were found to be first-degree cousins (Figure 1). The variant was confirmed by Sanger sequencing, including for both parents (Figure 1), and the results were consistent.
MRI of the patient's brain at the age of 11 months. Subtle bilateral diffuse subcortical and deep white matter T2 high-signal intensity was observed, showing evidence of diffusion restriction.
hgv201718-f3.jpg
PMC5444338_02_hgv201718-f3.jpg
fig3
Brain magnetic resonance imaging (MRI) showed cortical and subcortical high signal intensity, including basal ganglia (Figure 3).