Table 3c.
Phenotypes of Patients with Heterozygous Mutations in the CYP21A2 Gene in Various Ethnic Groups (Number of Patients, % of Genotypes).
| Anglo-Saxon | Ashkenazi Jews | Croatian | French | Hispanic | Iranian* | Italian | Italo-American | |
|---|---|---|---|---|---|---|---|---|
| Del/Ex1 | 1 NC (1%) | ND | ND | ND | 1 SV, 1 NC (2%) | ND | ND | ND |
| Del/Ex1 Int2 Ex3 | 7 SW (8%) | 5 SW (3%) | 1 SW (2%) | ND | 2 SW (2%) | ND | ND | 1 SW (2%) |
| Del/Int2 | 17 SW (18%) | ND | 1 SW (2%) | 1 SW, 1SV (13%) | 1 SW, 2 SV (4%) | ND | ND | 1 SW (2%) |
| Del/Ex3 | 2 SW (2%) | 1 SW (1%) | ND | ND | ND | ND | ND | ND |
| Del/Ex4 | 1 SW, 1 SV (2%) | 1 SV (1%) | ND | 1 SV (6%) | 5 SV (6%) | ND | ND | 5 SV (8%) |
| Del/Ex7 | ND | 21 NC, 1 SW (14%) | ND | ND | 4 NC (5%) | ND | 3 NC (5%) | 3 NC (6%) |
| Del/Ex8318 | 5 SW (5%) | ND | 2 SW (4%) | ND | 1 SW (1%) | ND | ND | ND |
| Del/Ex8356 | 2 SW, 1 SV (2%) | ND | 1 SW (2%) | ND | 1 SW (1%) | ND | ND | ND |
| Ex1 Int2 Ex3/Int2 | 2 SW (2%) | 1 SW (1%) | 2 SW (4%) | ND | 2 SW, 1 SV (4%) | 2 SW (3%) | ND | 1 SW (2%) |
| Ex1 Int2 Ex3/Ex4 | 1 SW, 1 SV (2%) | ND | 1 SV (2%) | 1 SV (6%) | ND | ND | ND | 1 SV (2%) |
| Ex1 Int2 Ex3/Ex7 | 2 NC (2%) | 1 SW, 3 NC (3%) | 1 NC (2%) | ND | ND | ND | ND | 1 NC (1%) |
| Ex1 Int2 Ex3/Ex8356 | ND | ND | 1 SW (2%) | ND | ND | ND | 1 SW (2%) | ND |
| Ex1/Int2 | 1 SW, 1 SV, 3 NC (5%) | 1 SV (1%) | 1 SV, 1 NC (4%) | ND | 1 NC (1%) | ND | ND | ND |
| Ex1/Ex3 | ND | ND | 1 SV (2%) | ND | ND | ND | ND | 1 SV (2%) |
| Ex3/Int2 | 2 SW (2%) | ND | ND | 1 SW (6%) | 1 SV (1%) | 1SW (2%) | ND | 1 NC (2%) |
| Ex4/Int2 | 3 SV (3%) | 2 SV (1%) | 1 SW, 1 SV (4%) | 1 SV (6%) | 1 SV (1%) | ND | 1 SW, 2 SV (5%) | 1 SW, 3 SV (8%) |
| Ex4/Ex7 | ND | 1 NC (1%) | 2 NC (4%) | ND | 5 NC (6%) | ND | 5 NC (9%) | 6 NC (6%) |
| Ex4/Ex8318 | 2 SV (2%) | ND | ND | ND | ND | ND | ND | 1 SV (2%) |
| Ex4/Ex8356 | 1 SW (1%) | ND | 1 SW (2%) | ND | ND | 1 SW (2%) | 1 SV (2%) | ND |
| Ex7/Int2 | 1 NC (1%) | 1 SW, 1 SV, 23 NC (16%) | 1 NC (2%) | 2 NC (13%) | 5 NC (6%) | ND | 1 SW, 6 NC (13%) | 2 NC (4%) |
| Ex7/Ex8318 | ND | 1 SV, 3 NC (3%) | 1 NC (2%) | ND | 1 NC (1%) | ND | 5 NC (9%) | ND) |
| Ex8318/Int2 | 1 SW (1%) | 1 SW (1%) | 2 SW 1 SV (6%) | 1 SW (6%) | 3 SW (4%) | 2 SW (3%) | ND | ND |
| Ex8356/Int2 | 3 SW (3%) | 2 SW (1%) | 2 SW (4%) | 1 SW (6%) | 1 SW (1%) | ND | 1 SW, 1 SV (4%) | ND |
| Total Patients | 93 | 155 | 50 | 16 | 81 | 61 | 53 | 50 |
SW= salt wasting, SV=simple virilizing, NC=nonclassical, ND= none detected, Del=large deletion, Ex1=P30L (89 C to T), Int2= IVS2 AS -13 (A/C to G), Ex3=8 bp deletion (Δ707-714), Ex4=I172N (1001 T to A), Ex7= V281L (1685 G to T), Ex8 318=Q318X (1994 C to T), Ex8 356=R356W (2109 G to A). Rare genotypes are not indicated.
*
Deletions were not determined for Iranian samples.