| Literature DB >> 35022528 |
Weijie Tian1, Na Chen1, Yang Ye1, Congcong Ma1, Chenglu Qin2, Yuchen Niu3,4, L Xiaoxin3,4, Lina Zhao3,4, Hengqiang Zhao3,5, Ze Liang1, Shuang Song1, Yuan Wang1, Zefu Chen3,5, Jiachen Lin3,5, Zihui Yan3,5, Jiali Duan1, Sen Zhao3,5, Terry Jianguo Zhang3,5, Guixing Qiu3,5, Zhihong Wu3,4,6, Nan Wu7,8,9, Lan Zhu10.
Abstract
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.Entities:
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Year: 2022 PMID： 35022528 DOI： 10.1038/s10038-021-00996-w
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172