COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lect...
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Public Library of Science (PLoS)
2017-03-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006679&type=printable |
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| author | Mustafa M Munye Anna Diaz-Font Louise Ocaka Maiken L Henriksen Melissa Lees Angela Brady Dagan Jenkins Jenny Morton Soren W Hansen Chiara Bacchelli Philip L Beales Victor Hernandez-Hernandez |
| author_facet | Mustafa M Munye Anna Diaz-Font Louise Ocaka Maiken L Henriksen Melissa Lees Angela Brady Dagan Jenkins Jenny Morton Soren W Hansen Chiara Bacchelli Philip L Beales Victor Hernandez-Hernandez |
| author_sort | Mustafa M Munye |
| collection | DOAJ |
| description | 3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families. The protein products of COLEC11 and COLEC10, CL-K1 and CL-L1 respectively, form heteromeric complexes. We show COLEC10 is expressed in the base membrane of the palate during murine embryo development. We demonstrate how mutations in COLEC10 (c.25C>T; p.Arg9Ter, c.226delA; p.Gly77Glufs*66 and c.528C>G p.Cys176Trp) impair the expression and/or secretion of CL-L1 highlighting their pathogenicity. Together, these findings provide further evidence linking the lectin complement pathway and complement factors COLEC11 and COLEC10 to morphogenesis of craniofacial structures and 3MC etiology. |
| format | Article |
| id | doaj-art-d4cff8dee67f4df98f85d62b08e48905 |
| institution | OA Journals |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2017-03-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-d4cff8dee67f4df98f85d62b08e489052025-08-20T02:03:16ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042017-03-01133e100667910.1371/journal.pgen.1006679COLEC10 is mutated in 3MC patients and regulates early craniofacial development.Mustafa M MunyeAnna Diaz-FontLouise OcakaMaiken L HenriksenMelissa LeesAngela BradyDagan JenkinsJenny MortonSoren W HansenChiara BacchelliPhilip L BealesVictor Hernandez-Hernandez3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families. The protein products of COLEC11 and COLEC10, CL-K1 and CL-L1 respectively, form heteromeric complexes. We show COLEC10 is expressed in the base membrane of the palate during murine embryo development. We demonstrate how mutations in COLEC10 (c.25C>T; p.Arg9Ter, c.226delA; p.Gly77Glufs*66 and c.528C>G p.Cys176Trp) impair the expression and/or secretion of CL-L1 highlighting their pathogenicity. Together, these findings provide further evidence linking the lectin complement pathway and complement factors COLEC11 and COLEC10 to morphogenesis of craniofacial structures and 3MC etiology.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006679&type=printable |
| spellingShingle | Mustafa M Munye Anna Diaz-Font Louise Ocaka Maiken L Henriksen Melissa Lees Angela Brady Dagan Jenkins Jenny Morton Soren W Hansen Chiara Bacchelli Philip L Beales Victor Hernandez-Hernandez COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genetics |
| title | COLEC10 is mutated in 3MC patients and regulates early craniofacial development. |
| title_full | COLEC10 is mutated in 3MC patients and regulates early craniofacial development. |
| title_fullStr | COLEC10 is mutated in 3MC patients and regulates early craniofacial development. |
| title_full_unstemmed | COLEC10 is mutated in 3MC patients and regulates early craniofacial development. |
| title_short | COLEC10 is mutated in 3MC patients and regulates early craniofacial development. |
| title_sort | colec10 is mutated in 3mc patients and regulates early craniofacial development |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006679&type=printable |
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