Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence

Abstract

Introduction and Objectives: Hypospadias is a condition in which the urethral orifice is located on the ventral side of the penis, more proximal to the tip of the glans. Hypospadia divide into two category, proximal type and distal type. The etiology of hypospadias remain unknown, but the previous study confirmed that gene mutation can be etiology of hypospadia incidence. The gene thought to play a role in the occurrence of hypospadias was the mastermind-like domain gene containing 1 (MAMLD1) or previously known as the CXorf6 gene (chromosome X opens reading frame 6). The objective of the study was to find the correlation between the gene mutation of MAMLD1 with hypospadias incidence. Method(s): This study is an observational analysis with case-control as design studies. This study included 30 hypospadias and 30 controls patient. The subjects are male hypospadias boys based on examinations conduct at the Department of Urology, Hasan Sadikin Hospital Bandung. Deoxyribonucleic acid (DNA) is taken from penile prepuce in both the case group and the control group. DNA extraction using the Homebrew method at the Eykman Laboratory, Padjadjaran University, Bandung. Mutation analysis will carried out by exon sequencing of MAMLD1 coding using the direct sequencing standard method at the Eykman Genetic Laboratory, Padjadjaran University, Bandung. The data that has been obtained will be analyzed using the chi-square correlation test method, if the chi-square requirements are not met, then use the fisher test exact. Result(s): The age of the patients was between 4 - 18 years old and the most frequent type of hypospadias was distal Type. MAMLD1 gene sequencing showed there was no mutation in any sample. In other words, from all hypospadias and control patient who were sequenced, the mutation rate was 0%. Conclusion(s): We concluded that MAMLD gene mutation was not different between hypospadias and control groups. There was no correlation between MAMLD1 gene mutation with hypospadias incidence. The limitation of this study was the sample size.