Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia

被引：0
|
作者：
S. Yu. Chernushyn
L. A. Livshits
机构：
[1] The Institute of Molecular Biology and Genetics of NASU,
来源：
Cytology and Genetics | 2016年 / 50卷
关键词：
21-hydroxylase; congenital adrenal hyperplasia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：183 / 186
页数：3
相关论文
共 50 条
  • [1] Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia
    Chernushyn, S. Yu.
    Livshits, L. A.
    CYTOLOGY AND GENETICS, 2016, 50 (03) : 183 - 186
  • [2] Frequency of CYP21A2 Gene Mutations in Peruvian Patients with Congenital Adrenal Hyperplasia
    Bellido More, C. C.
    Ortiz Rojas, C. A.
    Yarleque Chocas, M. M.
    Zaldivar Arias, M. C.
    Del Aguila Villar, C. M.
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 76 - 76
  • [3] Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia
    Neocleous, Vassos
    Ioannou, Yiannis S.
    Bartsota, Margarita
    Costi, Constandina
    Skordis, Nicos
    Phylactou, Leonidas A.
    CLINICAL BIOCHEMISTRY, 2009, 42 (13-14) : 1363 - 1367
  • [4] Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia
    Forouzanfar, K.
    Seifi, M.
    Hashemi-Gorji, F.
    Karimi, N.
    Estiar, M. A.
    Karimoei, M.
    Sakhinia, E.
    Karimipour, M.
    Ghergherehchi, R.
    CELLULAR AND MOLECULAR BIOLOGY, 2015, 61 (04) : 51 - 55
  • [5] Common CYP21A2 Gene Mutations in South Indian Congenital Adrenal Hyperplasia Patients
    Nageshwari, R.
    Dhivakar, M.
    Balakrishnan, K.
    Selvan, Sivan Arul
    Kumaravel, V.
    INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2017, 17 (03) : 103 - 108
  • [6] Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia
    Saraf, Shaily
    Srivastava, Priyanka
    Panigrahi, Inusha
    Seenappa, Venu
    Kumar, Rakesh
    Yadav, Jaivinder
    Daniel, Roshan
    Dayal, Devi
    INDIAN JOURNAL OF PEDIATRICS, 2024, 91 (02): : 137 - 142
  • [7] Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia
    Shaily Saraf
    Priyanka Srivastava
    Inusha Panigrahi
    Venu Seenappa
    Rakesh Kumar
    Jaivinder Yadav
    Roshan Daniel
    Devi Dayal
    Indian Journal of Pediatrics, 2024, 91 : 137 - 142
  • [8] Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia
    Khajuria, Ragini
    Walia, Rama
    Bhansali, Anil
    Prasad, Rajendra
    BIOCHIMIE, 2018, 149 : 115 - 121
  • [9] CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
    Umana-Calderon, Andres
    Jose Acuna-Navas, Maria
    Alvarado, Danny
    Jimenez, Mildred
    Cavallo-Aita, Fred
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 27
  • [10] Molecular analysis of CYP21A2 mutations for congenital adrenal hyperplasia in Japan.
    Usui, T
    Nishisho, K
    Kaji, M
    Nagata, D
    Sato, N
    Tagami, T
    Seta, K
    Shimatsu, A
    Naruse, M
    PROCEEDINGS OF THE 12TH INTERNATIONAL CONGRESS OF ENDOCRINOLOGY, 2004, : 1115 - 1119
12345