Saltarelli Maria Alessandra, Quarta Alessia, Chiarelli Francesco
Department of Pediatrics, University of Chieti, Chieti, Italy.
Ann Pediatr Endocrinol Metab. 2022 Dec;27(4):247-255. doi: 10.6065/apem.2244120.060. Epub 2022 Dec 31.
Many etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify patients with genetic causes of growth failure. Some of these factors directly affect the development and growth of the skeleton, since they damage the epiphyseal growth plate, where linear growth occurs, influencing chondrogenesis. In particular, defects in genes involved in the organization and function of the growth plate are responsible for several well-known conditions with short stature. These genes play a pivotal role in various mechanisms involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. In this review, we will discuss the genes involved in extracellular matrix disorders. The identification of genetic defects in linear growth failure is important for clinicians and researchers in order to improve the care of children affected by growth disorders.
人类中许多导致身材矮小的病因已被确定。在过去几年中，用于检测染色体和分子异常的新技术的出现，使得更好地识别生长发育迟缓的遗传病因患者成为可能。其中一些因素直接影响骨骼的发育和生长，因为它们会损害骺生长板，而线性生长正是在此发生，进而影响软骨形成。特别是，参与生长板组织和功能的基因缺陷是导致几种已知身材矮小病症的原因。这些基因在涉及细胞外基质、细胞内信号传导、旁分泌信号传导、内分泌信号传导和表观遗传调控的各种机制中发挥着关键作用。在本综述中，我们将讨论参与细胞外基质紊乱的基因。识别线性生长发育迟缓中的基因缺陷，对临床医生和研究人员来说非常重要，以便改善对受生长障碍影响儿童的护理。
