Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Li H

PROVIDER: S-EPMC9020933 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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

Li Haiping H Liao Shi S Luo Guangnan G Li Haixia H Wang Shuai S Li Zhimin Z Luo Xiping X

Journal of healthcare engineering 20220413

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 <i>Drosophila</i> 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 f ...[more]

PMID: 35463657

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Project description:BackgroundMayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX).Main bodyThe diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood.ConclusionSeveral advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

Dataset Information

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

Publications

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

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