Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Faculty of Medicine, Hebrew University of Jerusalem, Israel; Obstetrics and gynecology, Hadassah Medical Organization, Jerusalem, Israel.
J Pediatr Adolesc Gynecol. 2024 Feb;37(1):95-97. doi: 10.1016/j.jpag.2023.09.006. Epub 2023 Sep 20.
We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.
我们对一例遗传性 Mayer-Rokitansky-Küster-Hauser (MRKH) 综合征病例进行了遗传学研究。我们的患者是一名青少年及其患有 MRKH 综合征的母亲。通过代孕实现了生物后代的分娩。核型分析和外显子组测序用于完成该家系的三代遗传分析。母亲和女儿都在 2q37 位点携带 4Mb 的缺失，这是一种与 MRKH 相关的罕见综合征。未发现与表型相关的致病性单核苷酸变异。该缺失并非来自母亲的任何一方父母。此外，我们的患者还存在一些提示 2q37 缺失综合征的体格检查发现。我们得出结论，当与代孕或子宫移植结合使用时，确定 MRKH 的遗传原因可能使胚胎植入前遗传检测得以应用，从而有可能避免将遗传异常传递给后代。
