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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Nature Genetics, Volume 43, No. 3, Year 2011
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Description
3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway (collectin kidney 1 (CL-K1) and MASP-1 and MASP-3, respectively). CL-K1 is highly expressed in embryonic murine craniofacial cartilage, heart, bronchi, kidney and vertebral bodies. Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities. Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration. Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. © 2011 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Rooryck, Caroline
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Diaz-Font, Anna
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Osborn, Daniel P.S.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Chabchoub, Elyes
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Hernandez-Hernandez, Victor
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Shamseldin, Hanan E.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Kenny, Joanna
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Waters, Aoife M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Jenkins, Dagan
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Al-Kaissi, Ali
Austria, Vienna
Auva Soziale Unfallversicherung
Leal, Gabriela F.
Brazil, Recife
169694instituto de Medicina Integral Professor Fernando Figueira
Dallapiccola, Bruno
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Carnevale, Franco
Italy, Bari
Università Degli Studi Di Bari Aldo Moro
Bitner-Glindzicz, Maria A.K.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Lees, Melissa M.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Hennekam, Raoul C.M.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Stanier, Philip M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Burns, Alan J.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Peeters, Hilde
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Khalid University Hospital
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Beales, Philip L.Philip L.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Statistics
Citations: 227
Authors: 21
Affiliations: 11
Identifiers
Doi:
10.1038/ng.757
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Disability
Genetics And Genomics
Sexual And Reproductive Health