{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:07:24Z","timestamp":1790294844449,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071058"],"award-info":[{"award-number":["82071058"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012556","name":"Foundation for Innovative Research Groups of Hubei Province","doi-asserted-by":"publisher","award":["2023AFA038"],"award-info":[{"award-number":["2023AFA038"]}],"id":[{"id":"10.13039\/501100012556","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFF0702303"],"award-info":[{"award-number":["2021YFF0702303"]}],"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":["2023YFE0203200"],"award-info":[{"award-number":["2023YFE0203200"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary hearing loss is an important component of congenital hearing loss. <jats:italic>MARVELD2<\/jats:italic> (OMIM ID:610572), located in the DFNB49 locus, which encodes a tight junction protein tricellulin playing an important role in the sensory epithelial barrier of the inner ear, may contribute to nonsyndromic autosomal recessive hereditary hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two Han Chinese pedigrees with hearing loss underwent clinical and genetic analyses. Variants were detected by targeted next\u2010generation sequencing and sequencing data were compared with the Human Genome Reference (GRCh 37\/hg 19) to identify mutant genes and loci. Furthermore, online tools such as RDDC, SpliceAI, and REVEL were used to predict risks from different variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both two probands failed neonatal hearing screening and were diagnosed with sensorineural hearing loss. A total of 3 mutations were detected in the two families, c.1331+1G&gt;A, c.1325A&gt;G, and c.782G&gt;A. According to ACMG\/AMP guidelines, they were judged to be pathogenic, uncertain significance, and uncertain significance, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These findings contribute to a better understanding of the relationship between different variants of <jats:italic>MARVELD2<\/jats:italic> and hearing. This could further expand the spectrum of deafness gene mutations and contribute to deafness patient management and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2502","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T13:39:41Z","timestamp":1722346781000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel compound heterozygous variants in <scp><i>MARVELD2<\/i><\/scp> causing autosomal recessive hearing loss in two Chinese families"],"prefix":"10.1002","volume":"12","author":[{"given":"Xinyu","family":"Shi","sequence":"first","affiliation":[{"name":"Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaozhou","family":"Liu","sequence":"additional","affiliation":[{"name":"Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjun","family":"Zong","sequence":"additional","affiliation":[{"name":"Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengdong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1771-3715","authenticated-orcid":false,"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration  Wuhan China"},{"name":"Department of Otorhinolaryngology, Union Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Institute of Otorhinolaryngology, Union Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35572"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0219600"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.2471\/BLT.21.285643"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/9260807"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0209-3"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200510043"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.884522"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep18402"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otc.2015.07.007"},{"issue":"3","key":"e_1_2_10_11_1","first-page":"229","article-title":"Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene","volume":"35","author":"Liu X.","year":"2021","journal-title":"Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0124232"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu474"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI69031"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1532-y"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1205-8"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/510022"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.2147\/IMCRJ.S257654"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01817.x"},{"key":"e_1_2_10_20_1","volume-title":"GeneReviews\u00ae","author":"Shearer A. 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