Dataset Information

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

ABSTRACT: 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.

SUBMITTER: Munye MM

PROVIDER: S-EPMC5373641 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Munye Mustafa M MM Diaz-Font Anna A Ocaka Louise L Henriksen Maiken L ML Lees Melissa M Brady Angela A Jenkins Dagan D Morton Jenny J Hansen Soren W SW Bacchelli Chiara C Beales Philip L PL Hernandez-Hernandez Victor V

PLoS genetics 20170316 3

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/ ...[more]

PMID: 28301481

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Publications

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

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