PMC9479491_01
Brain MRI. Axial T1-weighted (A) and sagittal T1-weighted (B) magnetic resonance images of the patient. Note the presence of pure cerebellar atrophy and low cerebellar dentate nucleus signal, without involvement of the brain stem and cerebral cortex. Hyposignal in the dentate nucleus can be seen on T1 (C), but is absent on susceptibility weighted imaging (SWI) (D).
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F1
Magnetic resonance imaging (MRI) of the head showed atrophy of the cerebellum with no involvement of the brainstem or cerebral cortex, and low signal loss in the cerebellar dentate nucleus on sensitivity-weighted imaging (SWI) (Figure 1).
The strategies of gene date filtering.
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F2
The basic bioinformatics analysis including Reads, Mapping, Variant detection, Filtering, and Annotation were also endowed by Novogene Bioinformatics Institute. The strategies of data filtering refer to Figure 2.
Sanger sequencing of APTX exons. Sanger sequencing after PCR amplification revealed compound heterozygous mutations: the nonsense mutation (c.739C>T, p.Arg247*) in exon 7, and a frameshift mutation (c.501dupG, p.Ser168Glufs*19) in exon 6. c.501dupG is novel, while c.739C>T is a known pathogenic mutation.
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F3
After data filtering, a nonsense mutation in exon 7 (c.739C >T; p.Arg247*) and a frameshift mutation in exon 6 (c.501dupG; p.Ser168Glufs*19) were identified by using WES,and they were co-segregated with the affected members (Figure 3).