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A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia
AIM: To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS: We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS: We performed the very first genetic identification of LS families and charact...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Croatian Medical Schools
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490460/ https://www.ncbi.nlm.nih.gov/pubmed/23100212 http://dx.doi.org/10.3325/cmj.2012.53.496 |
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author | Hiljadnikova-Bajro, Marija Josifovski, Toni Panovski, Milco Dimovski, Aleksandar J. |
author_facet | Hiljadnikova-Bajro, Marija Josifovski, Toni Panovski, Milco Dimovski, Aleksandar J. |
author_sort | Hiljadnikova-Bajro, Marija |
collection | PubMed |
description | AIM: To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS: We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS: We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. The haplotype analysis suggested a founder effect of this mutation in our population. CONCLUSION: We expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry. |
format | Online Article Text |
id | pubmed-3490460 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Croatian Medical Schools |
record_format | MEDLINE/PubMed |
spelling | pubmed-34904602012-11-09 A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia Hiljadnikova-Bajro, Marija Josifovski, Toni Panovski, Milco Dimovski, Aleksandar J. Croat Med J Short Communication AIM: To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS: We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS: We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. The haplotype analysis suggested a founder effect of this mutation in our population. CONCLUSION: We expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry. Croatian Medical Schools 2012-10 /pmc/articles/PMC3490460/ /pubmed/23100212 http://dx.doi.org/10.3325/cmj.2012.53.496 Text en Copyright © 2012 by the Croatian Medical Journal. All rights reserved. http://creativecommons.org/licenses/by/2.5/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Communication Hiljadnikova-Bajro, Marija Josifovski, Toni Panovski, Milco Dimovski, Aleksandar J. A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia |
title | A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia |
title_full | A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia |
title_fullStr | A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia |
title_full_unstemmed | A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia |
title_short | A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia |
title_sort | novel germline mlh1 mutation causing lynch syndrome in patients from the republic of macedonia |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490460/ https://www.ncbi.nlm.nih.gov/pubmed/23100212 http://dx.doi.org/10.3325/cmj.2012.53.496 |
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