case_images: PMC9448896_01
case_images: The pedigree of the affected family. The squares indicate males; the circles indicate females; the black symbols indicate affected individuals; the arrow indicates the proband; wt/wt indicates homozygous wild-type.
case_images: fneur-13-984866-g0001.jpg
case_images: PMC9448896_01_fneur-13-984866-g0001.jpg
case_images: F1
case_images: The affected family pedigree is shown in Figure 1.
case_images: Sanger verification results indicated that the patient and his family members harbored the FIG4 mutation c.350dupC, as indicated by the red arrow.
case_images: fneur-13-984866-g0002.jpg
case_images: PMC9448896_01_fneur-13-984866-g0002.jpg
case_images: F2
case_images: Short Genetic Variations Database (dbSNP) (https://www.ncbi.nlm.nih.gov/snp), the 1000 Genomes Project (1000G) database (http://www.1000genomes.org/), the Exome Aggregation Consortium (ExAC) database (http://exac.broadinstitute.org/), and gnomAD (http://gnomad.broadinstitute.org/). Sanger validation identified a heterozygous mutation, c.350dupC:p.Asp118GlyfsTer9, of FIG4 in this patient, his father (I-1) and his brother (II-2) that was not present in his other family members (Figure 2).