MAMLD1 Gene Mutation in the Incidence of Hypospadias in the Chinese Population

Abstract

Summary Background: This study aimed to investigate the significance of MAMLD1 mutations in the incidence of hypospa-dias in a Chinese population. Methods: The experimental group consisted of 150 domestic children with hypospadias, aged 0.5 to six years and living in different provinces. A total of 120 normal children, aged two to six years, served as the control group. DNA was extracted for the direct sequencing of MAMLD1 genes. Results: Twelve cases (8.0%) of the missense mutation p.N589S were found in the experimental group, whereas four cases (3.0%) of the same mutation were found in the control group. No significant difference was observed in the mutation rate between the two groups (P>0.05). Four cases (2.7%) had a new missense mutation p.P567S in the experimental group, and three cases (2.5%) possessed the same mutation in the control group. No significant difference was observed between the two groups (P>0.05). Conclusions: In this study, the importance of repeated experiments in mutation-related studies was confirmed, which revealed the difference in predisposing genes among different populations. Although the mutation of the MAMLD1 gene had no apparent connection with the incidence of hypospadias in a Chinese population, a new mutation site of the MAMLD1 gene was discovered, which could provide new research topics for future studies.