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[Perlman syndrome research progress].

Zhenpeng Wang¹, Jingyi Liu, Yi Yang

¹Department of Gynecological Oncology, the First Hospital of Jilin University, Changchun, Jilin 130021, China. yangyi123@jlu.edu.cn.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|October 9, 2021

Summary

This summary is machine-generated.

Perlman syndrome, a rare genetic disorder, is linked to DIS3L2 gene mutations and causes overgrowth, distinctive features, and organ abnormalities. Early diagnosis and understanding its poor prognosis are crucial for affected individuals.

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Area of Science:

Genetics and rare diseases
Developmental biology
Pediatric oncology

Background:

Perlman syndrome is a rare autosomal recessive congenital overgrowth disorder.
It is caused by pathogenic variants in the DIS3L2 gene located at the 2q37 region.
Key clinical features include polyhydramnios, macrosomia, characteristic facial appearance, and renal dysplasia.

Purpose of the Study:

To provide a comprehensive review of Perlman syndrome.
To elucidate the current understanding of its pathogenesis.
To highlight the clinical characteristics and prognosis.

Main Methods:

Literature review of existing studies on Perlman syndrome.
Analysis of clinical case reports and genetic data.
Synthesis of information on DIS3L2 gene function and its role in development.

Main Results:

Pathogenic variants in DIS3L2 are confirmed as the cause of Perlman syndrome.
The syndrome presents with a consistent set of clinical features and a poor prognosis.
Survivors face challenges including developmental delay and an increased risk of Wilms tumor.

Conclusions:

Perlman syndrome is a significant genetic condition with severe implications.
Further research into the pathogenesis of DIS3L2 variants is needed.
Improved understanding may lead to better management strategies for affected children.