Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism.
10.3760/cma.j.cn511374-20251016-00609
- Author:
Linliang HONG
1
;
Ruimin CHEN
Author Information
1. Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350004, China. chenrm321@sina.com.
- Publication Type:English Abstract
- MeSH:
Humans;
Dwarfism/genetics*;
Microcephaly/genetics*;
Phenotype;
Fetal Growth Retardation/genetics*;
Osteochondrodysplasias/genetics*;
Growth Disorders;
Micrognathism;
Patella/abnormalities*;
Congenital Microtia
- From:
Chinese Journal of Medical Genetics
2026;43(1):76-80
- CountryChina
- Language:Chinese
-
Abstract:
Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of multiple genes whose products are mainly involved in critical cellular biological processes such as maintenance of genomic stability, DNA damage repair, mRNA splicing regulation, and centrosome function. Variants of such genes can directly impair cell proliferation and developmental potential. With the widespread application of molecular genetic technologies such as high-throughput sequencing, significant progress has been made in the research of PD. This article focuses on the major subtypes of PD, including Seckel syndrome, Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, MOPD type II, and Meier-Gorlin syndrome. It has systematically summarized the advances in their clinical phenotypic characteristics, pathogenic genes, and molecular mechanisms, with an aim to deepen the understanding of the essence of growth disorders associated with PD.
