The endometrial transcription landscape of MRKH syndrome

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute to the pathogenic unfolding, too, the etiology of the syndrome has remained largely enigmatic. A comprehensive understanding of gene activity in the context of the disease is crucial to identify etiological components and their potential interplay. So far, this understanding is lacking, primarily due to the scarcity of samples and suitable tissue.
In order to close this gap, we profiled endometrial tissue of uterus rudiments in a large cohort of MRKH patients using RNA-seq and thereby provide a genome-wide view on the altered transcription landscape of the MRKH syndrome.EGA study EGAS00001004601

梅耶-罗基坦斯基-屈斯特-豪泽（Mayer-Rokitansky-Küster-Hauser，简称MRKH）综合征（OMIM 277000）以卵巢功能正常的女性出现子宫及阴道上段发育不全为特征。尽管已有少数患者被鉴定出遗传病因，且表观遗传机制可能同样参与了该疾病的致病进程，但该综合征的病因学仍在很大程度上尚不明确。全面解析该疾病背景下的基因表达活性，对于明确其致病组分及潜在相互作用至关重要。截至目前，受限于样本与适宜研究组织的稀缺性，相关认知仍存在空白。为填补这一研究缺口，本研究针对大队列MRKH综合征患者的子宫始基子宫内膜组织开展了RNA测序（RNA-seq）分析，从而实现了对MRKH综合征异常转录组谱的全基因组视角解析。本研究对应的EGA研究编号为EGAS00001004601