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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
  1. Genomic DNA sequencing of the patient’s lymphocyte tissue showed PMS2 mutation NM_00535.5:c.1577delA (p.Asp526fs) in exon 11. Her mother and younger brother also carried PMS2 mutations