FIGURE

Fig. 1

ID

ZDB-FIG-250724-54

Publication

Liu et al., 2025 - Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia

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Fig. 1

Radiological, genetic, and evolutionary characterization of the novel TBC1D23 c.511_512delTT variant. (A) Sagittal T1- and T2-weighted MRI scans of the proband (II:2) show severe pontocerebellar hypoplasia (arrowheads) and a thinned corpus callosum (arrows). (B) Family pedigree demonstrating autosomal recessive inheritance. Genotypes are indicated below each symbol (TT/del, heterozygote; del/del, homozygote). (C) Representative Sanger sequencing electropherograms of a wild-type (“Normal”), heterozygous carrier, and homozygous affected individual, showing the c.511_512delTT deletion (red box). (D) Cross-species protein alignment surrounding Phe171 (red) demonstrates high evolutionary conservation of the residue lost in the p.F171Qfs*8 variant

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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