Genetic analysis of two Japanese patients with non-classical 21-hydroxylase deficiency.
We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I172N have been classified as mutations leading to severe impairment in enzyme activity, this study not only clarified a novel mutation causing 21-hydroxylase deficiency, but also demonstrated that genotype and phenotype do not correlate well in these cases.
Imamine
Rui
R
Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine.
Arima
Hiroshi
H
Kusakabe
Miho
M
Umeda
Hiroshi
H
Sato
Ikuko
I
Homma
Keiko
K
Usui
Takeshi
T
Oiso
Yutaka
Y
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D006801:Humans; D013255:Steroid 21-Hydroxylase / Q000235:genetics* / Q000378:metabolism*; D055815:Young Adult
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase