A genotype-first analysis in a cohort of Mullerian anomaly
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 o...
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| Veröffentlicht in: | Journal of human genetics 2022-06, Vol.67 (6), p.347-352 |
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| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1038/s10038-021-00996-w |
| format | Article |
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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.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/s10038-021-00996-w</identifier><identifier>PMID: 35022528</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Bone surgery ; Cervix ; Congenital diseases ; Etiology ; Female ; Fingers & toes ; Genes ; Genetics ; Genomics ; Genotype ; Genotype & phenotype ; Genotypes ; Gynecology ; Hospitals ; Humans ; Laboratories ; Lower Extremity Deformities, Congenital - genetics ; Medical schools ; Muellerian duct ; Mullerian Ducts - abnormalities ; Mullerian Ducts - pathology ; Mutation ; Obstetrics ; Patients ; Phenotypes ; Scoliosis ; Upper Extremity Deformities, Congenital - genetics ; Uterus ; Vagina</subject><ispartof>Journal of human genetics, 2022-06, Vol.67 (6), p.347-352</ispartof><rights>2022. The Author(s), under exclusive licence to The Japan Society of Human Genetics.</rights><rights>The Author(s), under exclusive licence to The Japan Society of Human Genetics 2022.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c355t-3e5d80fb9df32a9c2c195d47c2c4a7193ced566d08202d811521406d050e99523</citedby><cites>FETCH-LOGICAL-c355t-3e5d80fb9df32a9c2c195d47c2c4a7193ced566d08202d811521406d050e99523</cites><orcidid>0000-0002-9429-2889</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35022528$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tian, Weijie</creatorcontrib><creatorcontrib>Chen, Na</creatorcontrib><creatorcontrib>Ye, Yang</creatorcontrib><creatorcontrib>Ma, Congcong</creatorcontrib><creatorcontrib>Qin, Chenglu</creatorcontrib><creatorcontrib>Niu, Yuchen</creatorcontrib><creatorcontrib>Xiaoxin, L</creatorcontrib><creatorcontrib>Zhao, Lina</creatorcontrib><creatorcontrib>Zhao, Hengqiang</creatorcontrib><creatorcontrib>Liang, Ze</creatorcontrib><creatorcontrib>Song, Shuang</creatorcontrib><creatorcontrib>Wang, Yuan</creatorcontrib><creatorcontrib>Chen, Zefu</creatorcontrib><creatorcontrib>Lin, Jiachen</creatorcontrib><creatorcontrib>Yan, Zihui</creatorcontrib><creatorcontrib>Duan, Jiali</creatorcontrib><creatorcontrib>Zhao, Sen</creatorcontrib><creatorcontrib>Zhang, Terry Jianguo</creatorcontrib><creatorcontrib>Qiu, Guixing</creatorcontrib><creatorcontrib>Wu, Zhihong</creatorcontrib><creatorcontrib>Wu, Nan</creatorcontrib><creatorcontrib>Zhu, Lan</creatorcontrib><title>A genotype-first analysis in a cohort of Mullerian anomaly</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>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.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Bone surgery</subject><subject>Cervix</subject><subject>Congenital diseases</subject><subject>Etiology</subject><subject>Female</subject><subject>Fingers & toes</subject><subject>Genes</subject><subject>Genetics</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Gynecology</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Laboratories</subject><subject>Lower Extremity Deformities, Congenital - genetics</subject><subject>Medical schools</subject><subject>Muellerian duct</subject><subject>Mullerian Ducts - abnormalities</subject><subject>Mullerian Ducts - pathology</subject><subject>Mutation</subject><subject>Obstetrics</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Scoliosis</subject><subject>Upper Extremity Deformities, Congenital - genetics</subject><subject>Uterus</subject><subject>Vagina</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkMtOwzAQRS0EoqXwAyxQJDZsDONxnNrsqqo8pCI2ILGz3MSBVElc7ERV_x73AQtW89CZK80h5JLBLQMu7wKDWCggowBKZXR9RIYs5YIix4_jXZ9SwTI2IGchLCHiOMZTMuACEAXKIbmfJJ-2dd1mZWlZ-dAlpjX1JlQhqdrEJLn7cr5LXJm89HVtfWXitnVNZM7JSWnqYC8OdUTeH2Zv0yc6f318nk7mNOdCdJRbUUgoF6ooORqVY86UKNJxbFIzZornthBZVoBEwEIyJpClEGcBVimBfERu9rkr7757GzrdVCG3dW1a6_qgMYuBKUghI3r9D1263seHtlQmRSY5bgNxT-XeheBtqVe-aozfaAZ6a1bvzepoVu_M6nU8ujpE94vGFn8nvyr5D_4CcaU</recordid><startdate>20220601</startdate><enddate>20220601</enddate><creator>Tian, Weijie</creator><creator>Chen, Na</creator><creator>Ye, Yang</creator><creator>Ma, Congcong</creator><creator>Qin, Chenglu</creator><creator>Niu, Yuchen</creator><creator>Xiaoxin, L</creator><creator>Zhao, Lina</creator><creator>Zhao, Hengqiang</creator><creator>Liang, Ze</creator><creator>Song, Shuang</creator><creator>Wang, Yuan</creator><creator>Chen, Zefu</creator><creator>Lin, Jiachen</creator><creator>Yan, Zihui</creator><creator>Duan, Jiali</creator><creator>Zhao, Sen</creator><creator>Zhang, Terry Jianguo</creator><creator>Qiu, Guixing</creator><creator>Wu, Zhihong</creator><creator>Wu, Nan</creator><creator>Zhu, Lan</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9429-2889</orcidid></search><sort><creationdate>20220601</creationdate><title>A genotype-first analysis in a cohort of Mullerian anomaly</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c355t-3e5d80fb9df32a9c2c195d47c2c4a7193ced566d08202d811521406d050e99523</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Abnormalities, Multiple - 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Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tian, Weijie</au><au>Chen, Na</au><au>Ye, Yang</au><au>Ma, Congcong</au><au>Qin, Chenglu</au><au>Niu, Yuchen</au><au>Xiaoxin, L</au><au>Zhao, Lina</au><au>Zhao, Hengqiang</au><au>Liang, Ze</au><au>Song, Shuang</au><au>Wang, Yuan</au><au>Chen, Zefu</au><au>Lin, Jiachen</au><au>Yan, Zihui</au><au>Duan, Jiali</au><au>Zhao, Sen</au><au>Zhang, Terry Jianguo</au><au>Qiu, Guixing</au><au>Wu, Zhihong</au><au>Wu, Nan</au><au>Zhu, Lan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genotype-first analysis in a cohort of Mullerian anomaly</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2022-06-01</date><risdate>2022</risdate><volume>67</volume><issue>6</issue><spage>347</spage><epage>352</epage><pages>347-352</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><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.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>35022528</pmid><doi>10.1038/s10038-021-00996-w</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-9429-2889</orcidid></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Bone surgery Cervix Congenital diseases Etiology Female Fingers & toes Genes Genetics Genomics Genotype Genotype & phenotype Genotypes Gynecology Hospitals Humans Laboratories Lower Extremity Deformities, Congenital - genetics Medical schools Muellerian duct Mullerian Ducts - abnormalities Mullerian Ducts - pathology Mutation Obstetrics Patients Phenotypes Scoliosis Upper Extremity Deformities, Congenital - genetics Uterus Vagina |
| title | A genotype-first analysis in a cohort of Mullerian anomaly |
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