Department of Human Pathology of the Adult and Developmental Age, "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.
Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy.
Neuromolecular Med. 2023 Dec;25(4):650-656. doi: 10.1007/s12017-023-08759-w. Epub 2023 Sep 21.
Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the FGFR2 gene, determining a missense mutation. FGFR2 encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of FGFR2 on neurodevelopment. Our findings provide new insights into the potential causative role of FGFR2 gene in complex neurodevelopmental disorders.
自闭症谱系障碍（ASD）是一种已知的复杂神经发育障碍，在过去几十年中，随着研究基因组技术的增强，已成为密集研究活动的对象，许多涉及中枢神经系统发育和功能的基因与 ASD 的发生有关。在这里，我们报告了一名患有严重 ASD 的患者，其 FGFR2 基因中存在 G> A 的从头变异，导致错义突变。FGFR2 编码普遍存在的成纤维细胞生长因子受体（FGFR）2 型，这是一种酪氨酸激酶受体，参与多种生物学过程。这种蛋白质的突变版本已知负责几种可变重叠的综合征。尽管目前仍然只有稀疏和零星的数据，但最近的研究强调了 FGFR2 对神经发育的潜在作用。我们的发现为 FGFR2 基因在复杂神经发育障碍中的潜在因果作用提供了新的见解。
