Table 1 Genomic DNA sequencing of the patient and her family’s lymphocyte tissue
From: Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report
Patient and her family | Age (years) | Genotype (mutated gene, position, mutation at protein level, mutation at cDNA level) | Homozygous/heterozygous condition | RS number | Polyphen2 score | Minor allele frequency |
|---|---|---|---|---|---|---|
Patient | 16 | PMS2 6026819, p.Asp526fs, c.1577delA | Homozygous condition | – | – | – |
Mother | 45 | PMS2 6036980 G>C, p.S260S, c.780 C>G | Heterozygous condition | rs1805319 | – | 0.83127 |
PMS2 6043386 G>A, p.A96A, c.288 C>T | Heterozygous condition | rs12532895 | – | 0.11362 | ||
Younger brother | 5 | PMS2 6036980 G>C, p.S260S, c.780 C>G | Homozygous condition | rs1805319 | – | 0.83127 |
PMS2 6043386 G>A, p.A96A, c.288 C>T | Heterozygous condition | rs12532895 | – | 0.11362 | ||
PMS2 6026775 T>C, p.K541E, c.1621 A>G | Homozygous condition | rs2228006 | Benign (0.000) | 0.88319 | ||
PMS2 6045627 C>T, p.R20Q, c.59 G>A | Heterozygous condition | rs10254120 | Benign (0.164) | 0.07568 |