CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
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چکیده
منابع مشابه
CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17α-hydroxylase/17, 20-lyase deficiency and characterized the functional consequences of an intronic ...
متن کاملCombined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients w...
متن کاملAn easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. A 6-year-old phenotypically female patient presented with hypertension and...
متن کاملBRIEF REPORT A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17 -Hydroxylase/17,20-Lyase Deficiency
Center for Endocrinology (A.M.B., J.P.M.), William Harvey Research Institute, St. Bartholomew’s Hospital, Queen Mary, University of London, London EC1A 7BE, United Kingdom; Department of Clinical Biochemistry (N.F.T.), King’s College Hospital, London SE5 9RS, United Kingdom; Department of Medical Oncology (J.H.S., M.E.G., T.A.), Royal Marsden Hospital, London SW3 6JJ, United Kingdom; Institute ...
متن کاملSplicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
BACKGROUND Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation....
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2011
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0025492