PMC6110811_01
Mutations in PCCA gene. (A) Presented in GenBank dbSNP mutation (c.802C>T) in PCCA-exon 10 detected by Genetic diagnosis panel. (B) Novel mutation (c.827delG) in PCCA-exon 13 detected by Genetic diagnosis panel. (C) Presented mutation (c.802C>T) in PCCA-exon 10 detected by Sanger sequencing. (D) Novel mutation (c.827delG) in PCCA-exon 13 detected by Sanger sequencing. The results show father carried c.827delG mutation, while mother carried c.802C>T mutation. Mutation position were marked with green arrow in (C,D).
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F1
Two pathogenic mutations (c.802C>T/c.827delG) were detected in the PCCA gene (Table 2, Figure 1), among them, the variation rs774738181 (c.802C>T) was present on the dbSNP database which appeared to be "Likely pathogenic" in GenBank dbSNP (100915068). we propose that this variation may be pathogenic. (http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PCCA).
PMC6110811_02