{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T23:58:09Z","timestamp":1762300689790,"version":"3.37.3"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T00:00:00Z","timestamp":1717632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T00:00:00Z","timestamp":1717632000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002767","name":"Department of Science and Technology of Hunan Province","doi-asserted-by":"publisher","award":["2018SK2064","2018SK2064","2018SK2064","2018SK2064","2018SK2064","2018SK2064","2018SK2064"],"award-info":[{"award-number":["2018SK2064","2018SK2064","2018SK2064","2018SK2064","2018SK2064","2018SK2064","2018SK2064"]}],"id":[{"id":"10.13039\/501100002767","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Hunan Provincial Health and Wellness Commission","award":["202112030366","202112030366","202112030366"],"award-info":[{"award-number":["202112030366","202112030366","202112030366"]}]},{"name":"Ruixin project of Hunan Provincial Maternal and Child Health Care Hospital","award":["2023RX09","2023RX09","2023RX09"],"award-info":[{"award-number":["2023RX09","2023RX09","2023RX09"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research on monogenic diseases with recurrent miscarriage is insufficient.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here we reported a Chinese family with RPL and genetic analysis of the abortion and parents. A paternally inherited heterozygous missense variant c.1415T\u2009&gt;\u2009G (p.V472G) and a maternally inherited heterozygous nonsense variant c.2314del (p.M772*) in <jats:italic>TMEM67<\/jats:italic> gene were identified by trio-exome sequencing. c.2314del (p.M772*) generated a premature stop codon and truncated protein, was classified as \u201cpathogenic\u201d. c.1415T\u2009&gt;\u2009G (p.V472G) located in extra-cellular region, was classified as \u201clikely pathogenic\u201d. Biallelic variants in <jats:italic>TMEM67<\/jats:italic> gene cause lethal Meckel syndrome 3, consistent with the proband\u2019s prenatal phenotype.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The current study of the Chinese family expands the pathogenic variant spectrum of <jats:italic>TMEM67<\/jats:italic> and emphasizes the necessity of exome sequencing in RPL condition.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01902-x","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T09:02:33Z","timestamp":1717664553000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report"],"prefix":"10.1186","volume":"17","author":[{"given":"Jialun","family":"Pang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanjuan","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanglan","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Xi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqi","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,6]]},"reference":[{"key":"1902_CR1","doi-asserted-by":"publisher","first-page":"1872","DOI":"10.1016\/j.jri.2022.103785","volume":"155","author":"N Yu","year":"2023","unstructured":"Yu N, Kwak-Kim J, Bao S. 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Exome sequencing were performed with the parents\u2019 informed consent. Parental consent for this publication was obtained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication was obtained from all subjects or their legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"156"}}