PMC9448896_01
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.
fneur-13-984866-g0001.jpg
PMC9448896_01_fneur-13-984866-g0001.jpg
F1
The affected family pedigree is shown in Figure 1.
Sanger verification results indicated that the patient and his family members harbored the FIG4 mutation c.350dupC, as indicated by the red arrow.
fneur-13-984866-g0002.jpg
PMC9448896_01_fneur-13-984866-g0002.jpg
F2
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).