PMC9868473_01
Genotyping of the family members by Sanger sequencing. (A) Proband and his mother carrying variant c.292C>T (p.Arg98Trp). (B) Proband and his father carrying variant c.2534-2545del (p.Leu845-Met848del).
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PMC9868473_01_fgene-13-1079481-g001.jpg
F1
Novel compound heterozygote variants c.292C>T (p.Arg98Trp)/c.2534-2545del (p.Leu845-Met848del) in UNC45A were identified and were further confirmed by Sanger sequencing (Figure 1). Genotyping of the unaffected family members by Sanger sequencing showed that his mother carries the c.292C>T (p.Arg98Trp) variant, his father carries the c.2534-2545del (p.Leu845-Met848del) variant, and both variants are not detected in his brother (Figure 1).
PMC9868473_02