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An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital malformations of Müllerian structures, including the uterus and upper two-thirds of the vagina in women. Until now, the etiology of this disease has remained unknown. We hypothesized that EMX2 (the human homologue of Droso...

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Autores principales: Li, Haiping, Liao, Shi, Luo, Guangnan, Li, Haixia, Wang, Shuai, Li, Zhimin, Luo, Xiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020933/
https://www.ncbi.nlm.nih.gov/pubmed/35463657
http://dx.doi.org/10.1155/2022/9975369
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author Li, Haiping
Liao, Shi
Luo, Guangnan
Li, Haixia
Wang, Shuai
Li, Zhimin
Luo, Xiping
author_facet Li, Haiping
Liao, Shi
Luo, Guangnan
Li, Haixia
Wang, Shuai
Li, Zhimin
Luo, Xiping
author_sort Li, Haiping
collection PubMed
description Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital malformations of Müllerian structures, including the uterus and upper two-thirds of the vagina in women. Until now, the etiology of this disease has remained unknown. We hypothesized that EMX2 (the human homologue of Drosophila empty spiracles gene (2) might be a candidate gene for MRKH syndrome because it plays an important role in the development of the urogenital system. Through sequence analysis of EMX2 in forty patients with MRKH syndrome and one hundred and forty healthy women controls, we identified eleven variations in total. Four novel variations were only found in MRKH patients, and seven single nucleotide polymorphisms were identified in both patients and controls. In silico analyses suggested that the novel variations in the 5′UTR (untranslated region) and 3′UTR might affect transcriptional activity of the EMX2 promoter or posttranscriptional processing. In conclusion, our study suggests an association between noncoding variations in the EMX2 gene and MRKH syndrome in a Chinese Han population.
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spelling pubmed-90209332022-04-21 An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women Li, Haiping Liao, Shi Luo, Guangnan Li, Haixia Wang, Shuai Li, Zhimin Luo, Xiping J Healthc Eng Research Article Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital malformations of Müllerian structures, including the uterus and upper two-thirds of the vagina in women. Until now, the etiology of this disease has remained unknown. We hypothesized that EMX2 (the human homologue of Drosophila empty spiracles gene (2) might be a candidate gene for MRKH syndrome because it plays an important role in the development of the urogenital system. Through sequence analysis of EMX2 in forty patients with MRKH syndrome and one hundred and forty healthy women controls, we identified eleven variations in total. Four novel variations were only found in MRKH patients, and seven single nucleotide polymorphisms were identified in both patients and controls. In silico analyses suggested that the novel variations in the 5′UTR (untranslated region) and 3′UTR might affect transcriptional activity of the EMX2 promoter or posttranscriptional processing. In conclusion, our study suggests an association between noncoding variations in the EMX2 gene and MRKH syndrome in a Chinese Han population. Hindawi 2022-04-13 /pmc/articles/PMC9020933/ /pubmed/35463657 http://dx.doi.org/10.1155/2022/9975369 Text en Copyright © 2022 Haiping Li et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Li, Haiping
Liao, Shi
Luo, Guangnan
Li, Haixia
Wang, Shuai
Li, Zhimin
Luo, Xiping
An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
title An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
title_full An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
title_fullStr An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
title_full_unstemmed An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
title_short An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
title_sort association between emx2 variations and mayer-rokitansky-küster-hauser syndrome: a case-control study of chinese women
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020933/
https://www.ncbi.nlm.nih.gov/pubmed/35463657
http://dx.doi.org/10.1155/2022/9975369
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