PMC9634633_01
Pedigree chart and Sanger sequencing results of the family members. The proband was the younger brother (marked with the black arrow). The two siblings carried the compound heterozygous FIG4 variants. The results of Sanger sequencing indicated that the father was a heterozygous carrier of the c.2148delTinsAA (p.P718Tfs*3) variant (marked with the black box), and the mother was a heterozygous carrier of the c.317A > G (p.Y106C) variant (marked with the red arrow).
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F1
The pedigree had two male patients (Figure 1), who were the children of phenotypically normal Chinese parents.
PMC9634633_02
Upper and lower limbs of the two siblings. (A) The proband (1 year old); (B) the elder brother (7 years old).
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F2
Now he could not walk alone (Figure 2).
Brain MRI of the proband. Brain MRI showed the normal bilateral lateral ventricle and slightly thinner corpus callosum.
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F3
Brain magnetic resonance imaging (MRI) revealed a slightly thinner corpus callosum, and symmetrical long T1 and T2 signal changes in the ventral medulla oblongata and bilateral thalamus (Figure 3).
The spine x-rays. (A) The spine x-rays of the proband; (B) the spine x-rays of the elder brother. The spine x-rays showed that the spine of the proband was normal and the elder brother had severe scoliosis and cervical kyphosis.
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F4
The spine x-rays of the two siblings showed that the spine of the proband was normal (Figure 4A) and the elder brother had severe scoliosis and cervical kyphosis (Figure 4B).