Several genes play role in the etiology of non-syndromic cleft lip with/without palate (NS-CL/P). One of the candidate genes is a member of homeobox gene family, muscle segment homeobox 1 (MSX1). To date several different variations were reported in MSX1, some of these variations associated the anomaly with intronic CA repeat allele. The aim of the present study was to examine the related variations within MSX1 and intronic CA repeat alleles in a Turkish family. Family consists of 3 affected girls and 2 unaffected boys. Their mother was also affected and father was not affected. MSX1 exons, exon-intron boundaries and intronic CA repeat polymorphism was examined in all of the family members. We detected no mutation in exons and their boundaries to intron. For the CA repeat polymorphism, all the affected members had 169/ 175 bp CA repeat alleles and the unaffected members had 175/ 175 bp repeat alleles. These findings suggested the possible role of 169- bp repeat allele polymorphism in the studied Turkish family. The exact mechanism of the allele in the etiology of the anomaly is still being investigated.
Cleft lip/palate, MSX1, Turkish, mutation