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Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome
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 mutat...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432537/ https://www.ncbi.nlm.nih.gov/pubmed/32751929 http://dx.doi.org/10.3390/ijms21155483 |
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author | Gajek, Gabriela Świerzko, Anna S. Cedzyński, Maciej |
author_facet | Gajek, Gabriela Świerzko, Anna S. Cedzyński, Maciej |
author_sort | Gajek, Gabriela |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7432537 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74325372020-08-24 Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome Gajek, Gabriela Świerzko, Anna S. Cedzyński, Maciej Int J Mol Sci Review 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. MDPI 2020-07-31 /pmc/articles/PMC7432537/ /pubmed/32751929 http://dx.doi.org/10.3390/ijms21155483 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Gajek, Gabriela Świerzko, Anna S. Cedzyński, Maciej Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome |
title | Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome |
title_full | Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome |
title_fullStr | Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome |
title_full_unstemmed | Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome |
title_short | Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome |
title_sort | association of polymorphisms of masp1/3, colec10, and colec11 genes with 3mc syndrome |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432537/ https://www.ncbi.nlm.nih.gov/pubmed/32751929 http://dx.doi.org/10.3390/ijms21155483 |
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