A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia

• Published in: Croatian medical journal Vol. 53; no. 5; p. 496
• Main Authors: Hiljadnikova-Bajro, Marija, Josifovski, Toni, Panovski, Milco, Dimovski, Aleksandar J.
• Format: Web Resource
• Language: English
• Published: Medicinski fakultet Sveučilišta u Zagrebu, Medicinski fakultet Sveučilišta u Splitu, Medicinski fakultet Sveučilišta u Rijeci 15-10-2012
• ISSN: 0353-9504; 1332-8166

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 costeffective
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.