Genetic Mutations for the 3MC Syndrome Analytical Essay by Rifkhan

Genetic Mutations for the 3MC Syndrome
A review of a study by Rooryck et al. on the genetic mutations behind the 3MC syndrome.
# 153748 | 934 words | 4 sources | MLA | 2013 | SA
Published on Dec 05, 2013 in Medical and Health (Medical Studies) , Biology (Genetics)

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The paper discusses a new study by Rooryck et al. that reveals that mutations in two genes, COLEC11 and MASP1, which encode proteins for the lectin complement pathway, are responsible for the 3MC syndrome. The paper explains that the term '3MC syndrome' is a clinical entity that comprises of four rare autosomal recessive disorders, namely, the Carnevale, Mingarelli, Malpuech, Michels syndromes. Furthermore, the paper discusses the study's evidence that the CL-K1 protein, expressed by the COLEC11 gene, acts as guidance signals for transient, migratory NCCs and other cell types in the embryogenesis stage. The paper notes that further breakthroughs have to be made in discovering the precise role of the CL-K1 protein in embryogenesis, and its specific role in early craniofacial development.

From the Paper:

"The term, 3MC syndrome is a clinical entity that comprises of four rare autosomal recessive disorders namely, Carnevale, Mingarelli, Malpuech, Michels syndromes. Rooryck et al.1 confirms that these disorders are allelic variants from a very similar disease category, as they found that individuals displaying each one of the four diagnoses had both mutant COLEC11 and MASP1 genes. Moreover, coherent differences weren't observed in the presenting phenotype between individuals having both gene mutations. As per general statistics, about 70-95% of 3MC patients show deformed facial traits, 40-68% show cleft lip or palate and cognitive and growth impairment, while 20-30% have genital, limb or vesico-renal abnormalities. Consequently, it was proposed that the four disorders be commonly called the 3MC syndrome or more descriptively called craniofacial-ulnar-renal syndrome.
"Rooryck et al.1 are the first to report that mutated COLEC11 and MASP1 genes of the lectin complement pathway are the cause of human developmental disorders like 3MC syndrome. For their study, they obtained DNA samples from 11 families with a history of 3MC syndrome and found that all 16 affected individuals (from all 11 families) had either a COLEC11 or MASP1 gene mutation. The study reports one deletion, two frame-shift and three mis-sense mutations at different positions within the COLEC11 gene and also three mis-sense mutations in the MASP1 gene (Fig. 1 below). In the affected individuals all mutations were in the homozygous state."

Sample of Sources Used:

  • Rooryck, C. et al. Nature Genetics 43, 197-203 (2011).
  • Fujita, T., Matsushita, M. & Endo, Y. Immunological Reviews 198, 185-202 (2004).
  • Lynch, N.J. et al. Journal of Immunology 174, 4998-5006 (2005).
  • Sirmaci, A. et al. American Journal of Human Genetics 87, 679-686 (2010).

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Genetic Mutations for the 3MC Syndrome (2013, December 05) Retrieved November 29, 2020, from

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"Genetic Mutations for the 3MC Syndrome" 05 December 2013. Web. 29 November. 2020. <>