Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome
Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, 93-232 Lodz, Poland
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(15), 5483; https://doi.org/10.3390/ijms21155483
Received: 30 June 2020 / Revised: 29 July 2020 / Accepted: 30 July 2020 / Published: 31 July 2020
(This article belongs to the Special Issue Rare Diseases - Molecular Mechanisms and Therapeutic Strategies (III))
The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in COLEC10 associated with 3MC syndrome have been identified. Their products play an essential role as factors involved in the activation of complement via the lectin or alternative (MASP-3) pathways. Recent data indicate that mannose-binding lectin-associated serine protease-1 (MASP-1), MASP-3, collectin kidney-1 (collectin-11) (CL-K1), and collectin liver-1 (collectin-10) (CL-L1) also participate in the correct migration of neural crest cells (NCC) during embryogenesis. This is supported by relationships between MASP1/3, COLEC10, and COLEC11 gene mutations and the incidence of 3MC syndrome, associated with craniofacial abnormalities such as radioulnar synostosis high-arched eyebrows, cleft lip/palate, hearing loss, and ptosis.
View Full-Text
▼
Show Figures
Figure 1
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
MDPI and ACS Style
Gajek, G.; Świerzko, A.S.; Cedzyński, M. Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. Int. J. Mol. Sci. 2020, 21, 5483.
AMA Style
Gajek G, Świerzko AS, Cedzyński M. Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. International Journal of Molecular Sciences. 2020; 21(15):5483.
Chicago/Turabian StyleGajek, Gabriela; Świerzko, Anna S.; Cedzyński, Maciej. 2020. "Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome" Int. J. Mol. Sci. 21, no. 15: 5483.
Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.
Search more from Scilit
