PMC9113868_01
Pedigree chart. Individuals highlighted in black had Basan syndrome. (+) indicates the mutation in the SMARCAD1 gene had been confirmed by Sanger sequencing. (-) indicates no mutation in the SMARCAD1 gene was detected by Sanger sequencing.
DM2022-7840710.002.jpg
PMC9113868_01_DM2022-7840710.002.jpg
fig2
As shown in the pedigree chart (Figure 2), (+) indicates the mutation has been confirmed by Sanger sequencing. (-) indicates no mutation was detected by Sanger sequencing.
Sanger sequencing result of the pathogenic mutant gene of the (a) proband, (b) proband's father, and (c) proband's mother.
DM2022-7840710.004.jpg
PMC9113868_01_DM2022-7840710.004.jpg
fig4
The WES result was further confirmed by Sanger sequencing (Figure 4(a)). They were also confirmed carrying the same mutation by Sanger sequencing.  Figure 4(b) illustrates the mutation of the proband's father (III-10). III-11 and IV-1 did not carry this mutation, while no Basan syndrome was diagnosed.  Figure 4(c) illustrates that the mutation was not discovered in the proband's mother (III-11).
An illustration of Minigene analysis.
DM2022-7840710.005.jpg
PMC9113868_01_DM2022-7840710.005.jpg
fig5
Our data indicated that the mutation in the SMARCAD1 gene site can lead to splicing variations: pseudoexon 1, pseudoexon 2, and exon 2 were all detected in the wild type, but pseudoexon 2 was skipped in the mutation type (Figure 5).