Description of a novel variant in the MAMLD1 gene in isolated hypospadias

Introduction Hypospadias is a multifactorial malformation. Among previously described genes, the MAMLD1 has recently been identified in association with the development of hypospadias. So far, there are no studies in Latin America addressing this gene. The aim of this paper is to describe the presence of variants in exon 3 of the MAMLD1 in our population. Materials and Methods Using the Bio-Repository’s database of the Human Genetics Institute, we identified 51 patients between 2008 and 2012 with varying degrees of isolated hypospadias. Exon 3 was sequenced looking for polymorphisms. These were assessed with in silico prediction algorithms to describe the effect of these changes on the function and structure of the protein. Results Four patients with 3 variants were identified. The p.S364P variant has not been previously described and has a deleterious effect. The other two, rs41313406 and rs61740566, have been previously described and are not considered variations with harmful effect on the protein function. The genotype-phenotype correlation varies in severity between the variables described. Conclusions For the first time a Latin American population is molecularly analyzed. The p. S364P variation has never been described before. Variations with different degrees of hypospadias are described.