{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:38:37Z","timestamp":1759797517121,"version":"build-2065373602"},"reference-count":67,"publisher":"Oxford University Press (OUP)","issue":"20","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Guangxi Zhuang Region Health Department No","award":["Z20200691"],"award-info":[{"award-number":["Z20200691"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071661","82271898"],"award-info":[{"award-number":["82071661","82271898"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2023YFC2705600"],"award-info":[{"award-number":["2023YFC2705600"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2020YFA0804001","2020YFA0804000"],"award-info":[{"award-number":["2020YFA0804001","2020YFA0804000"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The molecular etiology of more than half of neurodevelopment disorders remains unknown. In this study, we identified recessive variants in the TMPRSS7 gene in a fetus from a non-consanguineous Chinese family with a history of recurrent central nervous system (CNS) malformations, as the likely genetic cause of a neurodevelopmental disorder. TMPRSS7 encodes matriptase-3, a type II transmembrane serine protease (TTSP) that becomes active when its catalytic domain is released outside the cell. During the proteolytic process, the canonical RV(I)V(I)G motif is cleaved, converting the inactive single-chain zymogen into its active form. This activation is closely temporally coupled with TTSPs shedding and ultimately leads to the release of the catalytic domain into the extracellular space to exert its function. The patient carrying compound heterozygous variants in the TMPRSS7 gene, p.R479H and p.S685Kfs*26, exhibited impaired synthesis of the matriptase-3 protease zymogen and defective shedding of the functional serine protease domain. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus. Collectively, our findings identify TMPRSS7 as a candidate gene essential for normal neurodevelopment, highlighting its potential role in the molecular pathogenesis of neurodevelopmental disorders.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf137","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T01:10:28Z","timestamp":1755047428000},"page":"1705-1717","source":"Crossref","is-referenced-by-count":0,"title":["Loss of function variants in <i>TMPRSS7<\/i> linked to a neurodevelopmental disorder disrupt synaptic function"],"prefix":"10.1093","volume":"34","author":[{"given":"Weiliang","family":"Lu","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University , No. 419 Fangxie Road, Huangpu District, Shanghai 200011 ,","place":["China"]},{"name":"Institute of Medical Genetics and Development, Key Laboratory of Reproductive Genetics (Ministry of Education) and Women\u2019s Hospital, Zhejiang University School of Medicine , No. 1 Xueshi Road, Shangcheng District, Hangzhou, Zhejiang 310006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1105-5571","authenticated-orcid":false,"given":"Shuyuan","family":"Li","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University , No. 910 Hengshan Road, Xuhui District, Shanghai 200030 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songchang","family":"Chen","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University , No. 419 Fangxie Road, Huangpu District, Shanghai 200011 ,","place":["China"]},{"name":"Obstetrics and Gynecology Hospital of Fudan University , No. 419 Fangxie Road, Huangpu District, Shanghai 200011 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,","place":["China"]},{"name":"International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University , No. 910 Hengshan Road, Xuhui District, Shanghai 200030 ,","place":["China"]},{"name":"Research Units of Embryo Original Diseases, Chinese Academy of Medical Sciences , NO. 131 Dong\u2019an Road, Xuhui District, Shanghai 200032 ,","place":["China"]},{"name":"Shanghai Frontiers Science Research Center of Reproduction and Development , NO. 131 Dong\u2019an Road, Xuhui District, Shanghai 200032 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0433-8909","authenticated-orcid":false,"given":"Chenming","family":"Xu","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University , No. 419 Fangxie Road, Huangpu District, Shanghai 200011 ,","place":["China"]},{"name":"Obstetrics and Gynecology Hospital of Fudan 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