Perlman syndrome research progress.
10.3760/cma.j.cn511374-20200717-00525
- Author:
Zhenpeng WANG
1
;
Jingyi LIU
;
Yi YANG
Author Information
1. Department of Gynecological Oncology, the First Hospital of Jilin University, Changchun, Jilin 130021, China. yangyi123@jlu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Female;
Fetal Macrosomia;
Humans;
Kidney Tubules, Proximal;
Pregnancy;
Syndrome;
Wilms Tumor
- From:
Chinese Journal of Medical Genetics
2021;38(10):1021-1024
- CountryChina
- Language:Chinese
-
Abstract:
Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome is characterized by polyhydramnios, macrosomia, distinctive facial appearance, and renal dysplasia. Prognosis of the disease is poor, and survivors usually have mental delay and a high risk of developing Wilms tumor. At present, the pathogenesis of this disease is still poorly understood. This article intends to provide a review for this disease.
