Title Nucleotide sequence changes in the MSX1 and IRF6 genes in Lithuanian patients with nonsyndromic orofacial clefting /
Translation of Title MSX1 ir IRF6 genų nukleotidų sekų pokyčiai, nustatyti lietuvos pacientams su veidinės srities įskilumais.
Authors Morkūnienė, Aušra ; Steponavičiūtė, Danguolė ; Kasnauskienė, Jūratė ; Kučinskas, Vaidutis
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Is Part of Acta medica Lituanica. 2006, vol. 13, no. 4, p. 219-225.. ISSN 1392-0138
Keywords [eng] Nonsyndromic cleft lip with ; Without cleft palate ; Candidate gene ; IRF6 ; MSX1 ; Nucleotide sequence variant
Abstract [eng] Background. Nonsyndromic orofacial clefing (NS-OFC) is among the most common malformations in humans. It is a complex multifactorial trait with a considerable genetic component. Among numerous candidate genes, those related to syndromic OFC recently have emerged as particularly strong ones. Our study was aimed to investigate whether mutations in the MSX1 and IRF6 genes contribute to NS-OFC in the population of Lithuania. Patients, materials and methods. Patients with NS-OFCs from Lithuania were tested for nucleotide sequence changes in the MSX1 gene (80 patients) and IRF6 gene (190 patients). DNA fragments covering MSX1 gene and exonic parts of the IRF6 gene were PCR-amplified, and the direct sequencing of the PCR products was performed with a subsequent comparison of sequencing results with reference DNA sequences of the genes. Results. Eight and 22 different nucleotide sequence changes were revealed in the MSX1 and IRF6 genes, respectively. While only already known functionally neutral polymorphisms were detected in the MSX1 gene, scanning IRF6 gene resulted in nine novel nucleotide sequence variants. Of them, three were missense mutations (p.S212I, p.L295P, p.R400L), which, together with the p.A61G mutation found in the case of Van der Woude syndrome, might be related to the NS-OFC phenotype in the population of Lithuania. Conclusions. Failure to find MSX1 gene mutations potentially related to NS-OFC phenotype of the probands from Lithuania does not reject the necessity to continue investigation on a larger population sample. Our study highlights the IRF6 gene sequence variability and supports the hypothesis that variation in this gene contributes to NS-OFC phenotype, encouraging further investigations to test whether IRF6 gene mutations identified in individuals from Lithuania are rare alleles causative for NS-OFC.
Type Journal article
Language English
Publication date 2006