Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia
In the article, the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes a...
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| Published in | Cytology and genetics Vol. 50; no. 3; pp. 183 - 186 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Allerton Press
01.05.2016
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| Abstract | In the article, the data on the distribution of
CYP21A2
gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes are presented. The most common mutation in the studied group (
n
= 27) is the
CYP21A2
gene deletion/conversion. Possible patterns of the studied mutations distribution in different populations of the world and the patients’ genotype–phenotype association are discussed. |
|---|---|
| AbstractList | In the article, the data on the distribution of
CYP21A2
gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes are presented. The most common mutation in the studied group (
n
= 27) is the
CYP21A2
gene deletion/conversion. Possible patterns of the studied mutations distribution in different populations of the world and the patients’ genotype–phenotype association are discussed. |
| Author | Livshits, L. A. Chernushyn, S. Yu |
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| Cites_doi | 10.1016/S0140-6736(05)66736-0 10.1210/jc.2006-1645 10.1210/jcem.85.3.6441 10.1007/s004390050394 10.1210/jcem.87.7.8664 10.1542/pir.21-5-159 10.1210/jc.2004-1728 10.1073/pnas.1221133110 10.1002/humu.10212 10.15407/biotech7.01.075 10.1210/jc.2002-021681 10.1007/s004390050672 10.4008/jcrpe.v1i3.49 10.1093/oxfordjournals.jbchem.a123433 |
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Genet. doi: 10.1007/s004390050672 contributor: fullname: M.L. Ordonez-Sanchez – volume: 90 start-page: 775 issue: 2 year: 2005 ident: 6427_CR17 publication-title: J. Clin. Endocrinol. Metab. doi: 10.1210/jc.2004-1728 contributor: fullname: S.M. Baumgartner-Parzer – volume: 21 start-page: 577 issue: 6 year: 2003 ident: 6427_CR5 publication-title: Hum. Mutat. doi: 10.1002/humu.10212 contributor: fullname: J.A. Stenson – volume: 99 start-page: 488 issue: 4 year: 1997 ident: 6427_CR14 publication-title: Hum. Genet. doi: 10.1007/s004390050394 contributor: fullname: A. Levo – volume: 26 start-page: 595 issue: 4 year: 2010 ident: 6427_CR11 publication-title: Int. J. Mol. Med. contributor: fullname: Z. Vrzalová – volume: 1 start-page: 116 issue: 3 year: 2009 ident: 6427_CR10 publication-title: J. Clin. Res. Pediatr. Endocrinol. doi: 10.4008/jcrpe.v1i3.49 contributor: fullname: F. Baş – volume: 85 start-page: 1059 issue: 3 year: 2000 ident: 6427_CR13 publication-title: J. Clin. Endocrinol. 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Metab. doi: 10.1210/jc.2006-1645 contributor: fullname: M.I. New – volume: 90 start-page: 775 issue: 2 year: 2005 ident: 6427_CR3 publication-title: J. Clin. Endocrinol. Metab. doi: 10.1210/jc.2004-1728 contributor: fullname: S.M. Baumgartner-Parzer – volume: 110 start-page: 2605 issue: 7 year: 2013 ident: 6427_CR6 publication-title: Proc. Natl. Cad. Sci. U. S. A. doi: 10.1073/pnas.1221133110 contributor: fullname: S. Haider – volume: 109 start-page: 638 issue: 4 year: 1991 ident: 6427_CR15 publication-title: J. Biochem. (Tokyo) doi: 10.1093/oxfordjournals.jbchem.a123433 contributor: fullname: Y. Higashi – volume: 88 start-page: 3852 issue: 8 year: 2003 ident: 6427_CR9 publication-title: J. Clin. Endocrinol. Metab. doi: 10.1210/jc.2002-021681 contributor: fullname: N.M. Stikkelbroeck – volume: 7 start-page: 75 issue: 1 year: 2014 ident: 6427_CR8 publication-title: Biotechnol. Acta doi: 10.15407/biotech7.01.075 contributor: fullname: S.Y. Chernushyn |
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gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N,... |
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| Title | Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia |
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