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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Rooryck, C; Diaz-Font, A; Osborn, DP; Chabchoub, E; Hernandez-Hernandez, V; Shamseldin, H; Kenny, J; Waters, A; Jenkins, D; Kaissi, AA; et al. Rooryck, C; Diaz-Font, A; Osborn, DP; Chabchoub, E; Hernandez-Hernandez, V; Shamseldin, H; Kenny, J; Waters, A; Jenkins, D; Kaissi, AA; Leal, GF; Dallapiccola, B; Carnevale, F; Bitner-Glindzicz, M; Lees, M; Hennekam, R; Stanier, P; Burns, AJ; Peeters, H; Alkuraya, FS; Beales, PL (2011) Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. NATURE GENETICS, 43 (3). 197 - U36 (8). ISSN 1061-4036 https://doi.org/10.1038/ng.757
SGUL Authors: Osborn, Daniel Peter Sayer

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Abstract

3MC syndrome has been proposed as a unifying term to integrate the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders of unknown cause comprise a spectrum of developmental features including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. In a cohort of eleven 3MC families, we identified two mutated genes COLEC11 and MASP1 both of which encode proteins within the lectin complement pathway (CL-K1 and MASP-1 & −3 respectively). CL-K1 is highly expressed in embryonic murine craniofacial cartilage, heart, bronchi, kidney, and vertebral bodies. Zebrafish morphants develop pigment defects and severe craniofacial abnormalities. Here, we show that CL-K1 serves as a key guidance cue for neural crest cell migration thus demonstrating for the first time, a role for complement pathway factors in fundamental developmental processes and the origin of 3MC syndrome.

Item Type: Article
Additional Information: PubMed ID: 21258343
Keywords: Abnormalities, Multiple, Animals, Cell Movement, Cleft Lip, Cleft Palate, Collectins, Complement Pathway, Mannose-Binding Lectin, Craniofacial Abnormalities, Craniosynostoses, Epistasis, Genetic, Mannose-Binding Protein-Associated Serine Proteases, Mutation, Neural Crest, Syndrome, Zebrafish, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, GENETICS & HEREDITY, UMBILICAL ANOMALIES, ANTERIOR-CHAMBER, ACTIVATION, SKELETAL, PROTEIN, SIBS, CARNEVALE, COLLECTIN, MALPUECH, PTOSIS
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: NATURE GENETICS
ISSN: 1061-4036
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Dates:
DateEvent
1 March 2011Published
Web of Science ID: WOS:000287693800009
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URI: http://openaccess.sgul.ac.uk/id/eprint/103425
Publisher's version: https://doi.org/10.1038/ng.757

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