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Table 2 Genotypes of CAH patients

From: Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency

Patients Genotype
  Paternal Allele Maternal Allele
1 30-kb del1 30-kb del
2 30-kb del 30-kb del
3 LGC2 30-kb del
4 30-kb del LGC
5 IVS2-2A > G 30-kb del
6 30-kb del c.920_921insT
7 p.I172N 30-kb del
8 30-kb del p.P30L
9 p.W19X 30-kb del
10 p.Q318X 30-kb del
11 30-kb del p.V281L
12 30-kb del IVS2-13A/C > G
13 p.R356W 30-kb del
14 IVS2-13A/C > G 30-kb del
15 c.920_921insT 30-kb del
16 30-kb del p.R356W
17 p.I172N 30-kb del
18 30-kb del p.Q318X
19 30-kb del p.I172N
20 30-kb del IVS2-13A/C > G
  1. 130-kb del = deletion of 30 kb including 3'-end CYP21A1P, C4B and 5'-end CYP21A2,
  2. 2LGC = large gene conversion;