Advance in research on the role of MAMLD1 gene in disorders of sex development.
10.3760/cma.j.cn511374-20200913-00666
- Author:
Fenqi GAO
1
;
Chunxiu GONG
;
Lele LI
Author Information
1. Department of Endocrinology, Genetics and Metabolism, National Center for Children's Health (Beijing), Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China. chunxiugong@sina.com.
- Publication Type:Review
- MeSH:
DNA-Binding Proteins/genetics*;
Disorders of Sex Development/genetics*;
Humans;
Male;
Mutation;
Nuclear Proteins/genetics*;
Phenotype;
Sexual Development;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(9):912-916
- CountryChina
- Language:Chinese
-
Abstract:
MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous spectrum" of simple micropenis, mild, moderate and severe hypospadias with micropenis, cryptorchidism, split scrotum and even complete gonadal dysplasia. The function of MAMLD1 gene in sexual development has not been fully elucidated, and its role in DSD has remained controversial. This article has reviewed recent findings on the role of the MAMLD1 gene in DSD, including the MAMLD1 gene, its encoded protein, genetic variants, clinical phenotype and possible pathogenic mechanism in DSD.
