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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...

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Autores principales: Hiljadnikova-Bajro, Marija, Josifovski, Toni, Panovski, Milco, Dimovski, Aleksandar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2012
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.
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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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