title: Association of MAMLD1 single-nucleotide polymorphisms  with hypospadias in Chinese Han population.
abstract: Hypospadias is one of the most common congenital malformations among children. Both gene mutations and environmental factors are thought to be involved in the development of hypospadias. The mastermind-like domain-containing 1 gene (MAMLD1, formerlyCXorf6) is a new candidate gene and its mutation has been shown in some cases of hypospadias. Here, by direct sequencing of PCR products, we assessed and found mutations that occur in 220 sporadic cases of hypospadias. The mutations p.N589S (c.1766A>G) was found at a significantly higher rate among patients with hypospadias.
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China.
authors.forename: Yidong
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China.
authors.forename: Weijing
authors.initials: W
authors.lastname: Ye
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Wu
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China, Hyr88955@yeah.net.
authors.forename: Yiran
authors.initials: Y
authors.lastname: Huang
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C528016:MAMLD1 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors