{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T21:45:35Z","timestamp":1792619135412,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the <jats:italic>COLEC10<\/jats:italic>\u00a0gene besides other genes like <jats:italic>COLEC11<\/jats:italic> and <jats:italic>MASP1<\/jats:italic>. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, genital and vesicorenal anomalies, cardiac anomalies, caudal appendage, and umbilical hernia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study, whole\u2010exome sequencing was performed in order to identify disease causing variant in an Iranian 7\u2010year\u2010old affected girl with craniosynostosis, dolichocephaly, blepharoptosis, clinodactyly of the 5th finger, high myopia, long face, micrognathia, patent ductus arteriosus, downslanted palpebral fissures, telecanthus, and epicanthus inversus. Identified variant confirmation in the patient and segregation analysis in her family were performed using Sanger sequencing method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel homozygous frameshift deletion variant [NM_006438.5: c.128_129delCA; p.(Thr43AsnfsTer9)] was identified within the <jats:italic>COLEC10<\/jats:italic>\u00a0gene. Up to now, only three 3MC syndrome patients with mutations in the <jats:italic>COLEC10<\/jats:italic>\u00a0gene have been reported, and here, we report the fourth patient and the first homozygous frameshift variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Other genes and factors responsible for 3MC syndrome occurrence are remained to be discovered. We believe further investigation of the genes in the lectin complement pathway is needed to be done for the identification of other causes of this disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1834","type":"journal-article","created":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T23:18:38Z","timestamp":1634080718000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Whole\u2010exome sequencing identified first homozygous frameshift variant in the <i>COLEC10<\/i> gene in an Iranian patient causing 3MC syndrome type 3"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7753-0910","authenticated-orcid":false,"given":"Pouria","family":"Mohammadi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"},{"name":"PardisGene Co. Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Salehi Siavashani","sequence":"additional","affiliation":[{"name":"PardisGene Co. Tehran Iran"},{"name":"Department of Stem Cells and Developmental Biology Cell Science Research Center Royan Institute for Stem Cell Biology and Technology ACECR Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Farid","family":"Mohammadi","sequence":"additional","affiliation":[{"name":"Department of Cell and Molecular Sciences Faculty of Biological Sciences Kharazmi University Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3165-1178","authenticated-orcid":false,"given":"Afshin","family":"Bahramy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navid","family":"Almadani","sequence":"additional","affiliation":[{"name":"Department of Genetics Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine ACECR Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-7903","authenticated-orcid":false,"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw408"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0345-3"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty560"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv178"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23880"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw069"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1597\/15-151"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1302121"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2016.05.007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2015.04.007"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-020-0255-7"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1105"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.040048"},{"issue":"5","key":"e_1_2_10_17_1","first-page":"1","article-title":"Identification of a novel missense c. 386G> A variant in a boy with the POMGNT1\u2010related muscular dystrophy\u2010dystroglycanopathy","volume":"120","author":"Mohammadi P.","year":"2020","journal-title":"Acta Neurologica Belgica"},{"issue":"3","key":"e_1_2_10_18_1","first-page":"1","article-title":"A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy","volume":"121","author":"Mohammadi P.","year":"2021","journal-title":"Acta Neurologica Belgica"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006679"},{"issue":"184","key":"e_1_2_10_20_1","first-page":"103","article-title":"GPU accelerated sequence alignment with traceback for GATK HaplotypeCaller","volume":"20","author":"Ren S.","year":"2019","journal-title":"BMC Genomics"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1049"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.757"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1177"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2011.12.008"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.33314\/jnhrc.v17i4.1042"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37564"}],"container-title":["Molecular Genetics &amp; 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