Table 1.
Carriers No. |
Carriers % (95% CI) |
Carrier Frequency | |
---|---|---|---|
Ashkenazi Population (N=200) | |||
Nonclassic CAHa | 30 | 15.0 (10.4 – 20.7) | 1 in 7 |
p.V281L | 28 | 14.0 (9.5 – 19.6) | |
p.P453S | 2 | 1.0 (0.1 – 3.6) | |
Classic CAH | 5 | 2.5 (0.8 – 5.7) | 1 in 40 |
IVS2–13A/C>G | 3 | 1.5 (0.3 – 4.3) | |
30-kb deletion | 1 | 0.5 (0.01 – 2.8) | |
p.I172N, exon 6 cluster,b p.V281L, p.Leu307fs | 1 | 0.5 (0.01 – 2.8) | |
U.S. Caucasian Population (N=200) | |||
Nonclassic CAHa | 19 | 9.5 (5.8 – 14.4) | 1 in 11 |
p.V281L | 17 | 8.5 (5.0 – 13.3) | |
p.P453S | 2 | 1.0 (0.1 – 3.6) | |
Classic CAH | 3 | 1.5 (0.3 – 4.3) | 1 in 67 |
IVS2–13A/C>G | 2 | 1.0 (0.1 – 3.6) | |
30-kb deletion | 1 | 0.5 (0.01 – 2.8) |
Abbreviations: CAH, congenital adrenal hyperplasia; CI, exact confidence interval for the binomial proportion. Nomenclature at the protein level is based on conventional codon numbering.
One possibly affected subject, resulting in a prevalence of nonclassic CAH of 1 in 200 (0.5%, 95% CI: 0.01–2.8).
Exon 6 cluster (p.I236N, p.V237E, p.M239K).