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Mutations in Steroid 21‐Hydroxylase (CYP21)
Author(s) -
White Perrin C.,
TusieLuna MariaTeresa,
New Maria I.,
Speiser Phyllis W.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030408
Subject(s) - congenital adrenal hyperplasia , 21 hydroxylase , biology , pseudogene , endocrinology , mutation , medicine , gene conversion , androgen excess , gene , genetics , allele , genome , insulin resistance , polycystic ovary , insulin
Abstract The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21‐hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21‐hydroxylase (P450c2l) is a microsomal enzyme expressed in the adrenal gland that catalyzes conversion of 17‐hydroxyprogesterone and progesterone to 11‐deoxycortisol and deoxycorticosterone respectively. In man, this enzyme is encoded by the CYP21 ( CYP21B ) gene which is located in the HLA major histocompatibility complex along with a pseudogene, CYP21P ( CYP21A ). Mutations in CYP21 causing congenital adrenal hyperplasia are almost all generated by recombinations between CYP21 and CYP21P . These recombinations either delete CYP21 or transfer deleterious mutations from CYP21P to CYP21 , a process termed apparent gene conversion. The degree of enzymatic compromise caused by each mutation is correlated with the clinical severity of the deficiency observed in patients carrying that mutation. © 1994 Wiley‐Liss, Inc.