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. Author manuscript; available in PMC: 2017 Nov 25.
Published in final edited form as: Genet Med. 2017 May 25;19(11):1276–1279. doi: 10.1038/gim.2017.46

Table 1.

Population statistics for carriership of nonclassic and classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Ashkenazi Jewish and general U.S. Caucasian populations.

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.

a

One possibly affected subject, resulting in a prevalence of nonclassic CAH of 1 in 200 (0.5%, 95% CI: 0.01–2.8).

b

Exon 6 cluster (p.I236N, p.V237E, p.M239K).