Journal of human genetics · 2022
A genotype-first analysis in a cohort of Mullerian anomaly.
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Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu Lan
Аннотация
Müllerian anomaly (M.A.) is a group of congenital anatomic abnormalities caused by aberrations of the development process of the Müllerian duct. M.A. can either be isolated or be involved in Mendelian syndromes, such as Dandy-Walker syndrome, Holt-Oram syndrome and Bardet-Biedl syndrome, which are often associated with both uterus and kidney malformations. In this study, we applied a genotype-first approach to analyze the whole-exome sequencing data of 492 patients with M.A. Six potential pathogenic variants were found in five genes previously related to female urogenital deformities (PKD1, SON, SALL1, BMPR1B, ITGA8), which are partially overlapping with our patients' phenotypes. We further identified eight incidental findings in seven genes related to Mendelian syndromes without known association with reproductive anomalies (TEK, COL11A1, ANKRD11, LEMD3, DLG5, SPTB, BMP2), which represent potential phenotype expansions of these genes.