Research progress of genetic research on POIKTMP syndrome.
10.3760/cma.j.cn511374-20250623-00383
- Author:
Hui YANG
1
;
Rong XIANG
;
Liangliang FAN
Author Information
1. School of Life Science, Central South University, Changsha, Hunan 410013, China. swfanliangliang@csu.edu.cn.
- Publication Type:English Abstract
- MeSH:
Humans;
Pulmonary Fibrosis/genetics*;
Skin Diseases, Genetic/genetics*
- From:
Chinese Journal of Medical Genetics
2026;43(3):228-233
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant genetic disorder. It may also involve many other organ systems, leading to complications such as exocrine pancreatic insufficiency, liver dysfunction, lymphedema, and developmental delay. The FAM111B has been determined as the pathogenic gene associated with POIKTMP syndrome, whose protein product plays a critical role in regulating essential cellular processes including DNA repair and replication, cell cycle progression, apoptosis, nuclear transport, and telomere length maintenance. This article has provided a comprehensive review for the genetic basis of POIKTMP syndrome and its correlation with various phenotypes, which may offer insights for basic research and clinical diagnosis of this disease.
