PMC8355614_01
Results of blood smear and direct sequencing. (A) The black arrow indicates inclusion bodies in the neutrophils on the blood smear (Wright-Giemsa staining). (B) The results of direct sequencing of MYH9 exon 41 in the proband and other family members. The proband and her son were both heterozygous for a deletion mutation of c.5797delC, which then led to a frameshift mutation and caused a prematurely truncated protein p. R1933Efs*15.
fgene-12-705832-g0001.jpg
PMC8355614_02_fgene-12-705832-g0001.jpg
F1
R1933Efs*15) in both the patient and her son in the MYH9 gene, but no mutations were found in the sister of the patient, who had normal manifestations (Figure 1B).
PMC8355614_02
Results of blood smear and direct sequencing. (A) The black arrow indicates inclusion bodies in the neutrophils on the blood smear (Wright-Giemsa staining). (B) The results of direct sequencing of MYH9 exon 41 in the proband and other family members. The proband and her son were both heterozygous for a deletion mutation of c.5797delC, which then led to a frameshift mutation and caused a prematurely truncated protein p. R1933Efs*15.
fgene-12-705832-g0001.jpg
PMC8355614_02_fgene-12-705832-g0001.jpg
F1
R1933Efs*15) in both the patient and her son in the MYH9 gene, but no mutations were found in the sister of the patient, who had normal manifestations (Figure 1B).
Family tree. In the family tree of this pedigree, the pattern differs as the severity differs. The severity is roughly dependent on the number of MYH9-RD related manifestations. The white pattern indicates physiological condition, while the all black pattern indicates the most severe.
fgene-12-705832-g0002.jpg
PMC8355614_02_fgene-12-705832-g0002.jpg
F2
The family tree was drawn according to the clinical manifestations and sequencing results (Figure 2).
Evaluation of the pathogenic potential of the c.5797delC mutation in MYH9. (A) Web-based software Mutation Taster showed that this mutation was disease causing, and the mutation at this position was reported. (B) Analysis of amino acid conservation based on the NCBI database.
fgene-12-705832-g0003.jpg
PMC8355614_02_fgene-12-705832-g0003.jpg
F3
Web-based software Mutation Taster (http://www.mutationtaster.org/) predicted that this mutation was disease causing and capable of causing amino acid sequence changes, frameshift, and splice site changes (Figure 3A). In addition, arginine is an evolutionarily conserved amino acid in this protein among different organisms (Figure 3B), which indicates that changes in amino acids at this site may affect protein function.