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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;