IMR Press / FBL / Volume 22 / Issue 7 / DOI: 10.2741/4540

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.


Association of MAMLD1 single-nucleotide polymorphisms with hypospadias in Chinese Han population

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1 Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China
2 Department of Urology, Children’s Hospital of Fudan University, Shanghai, 200032, China

Academic Editor: Wei Qin

Front. Biosci. (Landmark Ed) 2017, 22(7), 1173–1176;
Published: 1 March 2017
(This article belongs to the Special Issue Pathogenesis and diagnostic modalities in cancer)

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, formerly CXorf6) 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.

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