H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
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چکیده
منابع مشابه
H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
Received: April 1, 2009 Accepted: May 13, 2009 Correspondence: Dr. Keisuke Nagasaki, Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, 1-757 Asahimachi, Niigata 951-8510, Japan E-mail: [email protected] H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
متن کاملHeterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weigh...
متن کاملIdentification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby ...
متن کاملIsolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%-95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. Most of the disease-causing mutations described are likely to be the consequence of nonh...
متن کاملJunction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
BACKGROUND Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) and its highly homologous pseudogene CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene), are common in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). A comprehensive juncti...
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 2009
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.18.111