Literature DB >> 33552641

A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.

Maria Laura Iezzi1, Gaia Varriale2, Luca Zagaroli2, Stefania Lasorella2, Marco Greco2, Giulia Iapadre2, Alberto Verrotti2.   

Abstract

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype-phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH. Thieme. All rights reserved.

Entities:  

Keywords:  CYP21A2 mutation; Q318X; R356W; R369Q; homozygous; salt-wasting CAH

Year:  2020        PMID： 33552641      PMCID： PMC7853915          DOI： 10.1055/s-0040-1705110

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  38 in total

Review 1.  CYP21 mutations and congenital adrenal hyperplasia.

Authors:  H H Lee
Journal:  Clin Genet       Date:  2001-05       Impact factor: 4.438

2.  Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  Gabriela P Finkielstain; Wuyan Chen; Sneha P Mehta; Frank K Fujimura; Reem M Hanna; Carol Van Ryzin; Nazli B McDonnell; Deborah P Merke
Journal:  J Clin Endocrinol Metab       Date:  2010-10-06       Impact factor: 5.958

Review 3.  Congenital adrenal hyperplasia.

Authors:  Deborah P Merke; Stefan R Bornstein
Journal:  Lancet       Date:  2005 Jun 18-24       Impact factor: 79.321

4.  Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.

Authors:  V Delague; N Souraty; E Khallouf; V Tardy; E Chouery; G Halaby; J Loiselet; Y Morel; A Mégarbané
Journal:  Horm Res       Date:  2000

Review 5.  Impact of molecular genetics on congenital adrenal hyperplasia management.

Authors:  A Balsamo; L Baldazzi; S Menabò; A Cicognani
Journal:  Sex Dev       Date:  2010-07-15       Impact factor: 1.824

6.  Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.

Authors:  F Sadeghi; N Yurur-Kutlay; M Berberoglu; E Cetinkaya; Z Aycan; C Kara; H Ilgin Ruhi; G Ocal; Z Siklar; A Elhan; A Tukun
Journal:  J Pediatr Endocrinol Metab       Date:  2008-08       Impact factor: 1.634

7.  Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

Authors:  Shozeb Haider; Barira Islam; Valentina D'Atri; Miriam Sgobba; Chetan Poojari; Li Sun; Tony Yuen; Mone Zaidi; Maria I New
Journal:  Proc Natl Acad Sci U S A       Date:  2013-01-28       Impact factor: 11.205

8.  Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.

Authors:  Paola Concolino; Enrica Mello; Vincenzo Toscano; Franco Ameglio; Cecilia Zuppi; Ettore Capoluongo
Journal:  Clin Chim Acta       Date:  2009-04       Impact factor: 3.786

9.  CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.

Authors:  Fatima Abid; Véronique Tardy; Ahmed Gaouzi; Aboubaker El Hessni; Yves Morel; Layachi Chabraoui
Journal:  Clin Chem Lab Med       Date:  2008       Impact factor: 3.694

10.  Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Authors:  Carlos D Bruque; Marisol Delea; Cecilia S Fernández; Juan V Orza; Melisa Taboas; Noemí Buzzalino; Lucía D Espeche; Andrea Solari; Verónica Luccerini; Liliana Alba; Alejandro D Nadra; Liliana Dain
Journal:  Sci Rep       Date:  2016-12-14       Impact factor: 4.379
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.