Title: Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Authors: Rooryck, Caroline ×
Diaz-Font, Anna
Osborn, Daniel P S
Chabchoub, Elyes
Hernandez-Hernandez, Victor
Shamseldin, Hanan
Kenny, Joanna
Waters, Aoife
Jenkins, Dagan
Kaissi, Ali Al
Leal, Gabriela F
Dallapiccola, Bruno
Carnevale, Franco
Bitner-Glindzicz, Maria
Lees, Melissa
Hennekam, Raoul
Stanier, Philip
Burns, Alan J
Peeters, Hilde
Alkuraya, Fowzan S
Beales, Philip L #
Issue Date: Mar-2011
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:43 issue:3 pages:197-U36
Abstract: 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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
× corresponding author
# (joint) last author

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