H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
نویسندگان
چکیده
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
منابع مشابه
Isolated 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...
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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90-95% of CAH cases. In the present work, we analyzed the functional consequence of four novel previously reported point CYP21A2 mutations -p.R132C, p.R149C, p.M283V, p.E431K- found in Argentinean 21-hydroxylase deficient patients. In addition, we report an acce...
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Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol. The enzyme defects are transmitted as an autosomal recessive trait. Patients with a "classical" form of CAH usually present during the neonatal and early infancy period with adrenal ...
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Objective The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype-phenotype relationships are unknown. Methods We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. Results The most frequent mutation among the 43 21-OHD cases was p.Ile172Asn (allele frequency, 36.0%), followe...
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