Institute of Human Genetics, Westfälische Wilhelms-Universität Münster (WWU), Münster, Germany.
Department of Obstetrics and Gynecology, Agaplesion Bethesda Krankenhaus, Wuppertal, Germany.
Clin Genet. 2018 Mar;93(3):640-646. doi: 10.1111/cge.13160. Epub 2018 Feb 5.
Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-comparative genomic hybridization (CGH) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In 8 patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11.21, 9q33.1, 3q26.11 and 7q31.1. The rearrangement in 17q12 including LHX1 and HNF1β as well as in 22q11.21 have already been observed in MRKHS (Mayer-Rokitansky-Küster-Hauser syndrome). In summary, we (1) detected causative micro-rearrangements in patients with Müllerian fusion anomalies, (2) show that Müllerian fusion anomalies and MRKHS may have a common etiology, and (3) identified new candidate genes for Müllerian fusion anomalies.
苗勒氏管融合异常与流产和早产风险增加有关。大多数情况下可以假定为多基因-多因素遗传，但应考虑常染色体显性遗传，其外显率降低且表现可变。我们对 103 名苗勒氏管融合异常患者进行了比较基因组杂交分析。在 8 名患者中，我们检测到染色体区域 17q12、22q11.21、9q33.1、3q26.11 和 7q31.1 上的微缺失和微重复。17q12 中的重排包括 LHX1 和 HNF1β 以及 22q11.21 已在 MRKHS（Mayer-Rokitansky-Küster-Hauser 综合征）中观察到。总之，我们 (1) 在苗勒氏管融合异常患者中检测到致病微重排，(2) 表明苗勒氏管融合异常和 MRKHS 可能具有共同的病因，(3) 鉴定了苗勒氏管融合异常的新候选基因。
