Pawelak Agnieszka, Polczyk Artur, Wolańska Ewelina, Kłaniewska Magdalena, Biela Mateusz, Basiak Aleksander, Franaszczyk Maria, Rydzanicz Małgorzata, Płoski Rafał, Śmigiel Robert
Department of Genetics, Medical University of Wroclaw, Wroclaw, Poland.
Medical Education and Simulation Laboratory, University Centre of Physiotherapy and Rehabilitation, Wroclaw Medical University, Wroclaw, Poland.
Front Pediatr. 2024 Nov 21;12:1435053. doi: 10.3389/fped.2024.1435053. eCollection 2024.
The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.2509G>A variant specifically leads to a substitution at position 837 in the protein, which is likely critical for its normal function. This study presents a male pediatric patient with a pathogenic TRPM3 variant c.2509G>A [p.(Val837Met)], contributing to a complex clinical phenotype characterized by developmental delays, significant hypotonia, and neurological abnormalities. The patient demonstrated delayed motor milestones, including the inability to sit independently until 20 months, and abnormal EEG findings without epileptic seizures. Ophthalmologic issues, such as hyperopia and astigmatism, were also identified. Behavioral abnormalities and cognitive impairment aligned with previous reports of TRPM3-related neurodevelopmental disorders. This case highlights the phenotypic variability linked to the p.(Val837Met) variant and emphasizes the need for further research into effective therapeutic strategies for TRPM3-associated conditions.
TRPM3基因是瞬时受体电位（TRP）阳离子通道家族的一部分，在感觉感知和离子转运中起关键作用。TRPM3基因突变与一系列神经和发育障碍有关。c.2509G>A变异体特别导致蛋白质第837位的替换，这可能对其正常功能至关重要。本研究报告了一名患有致病性TRPM3变异体c.2509G>A [p.(Val837Met)]的男性儿科患者，其具有以发育迟缓、明显肌张力低下和神经异常为特征的复杂临床表型。该患者表现出运动发育迟缓，包括直到20个月大时仍无法独立坐立，以及脑电图检查结果异常但无癫痫发作。还发现了眼科问题，如远视和散光。行为异常和认知障碍与先前关于TRPM3相关神经发育障碍的报告一致。该病例突出了与p.(Val837Met)变异体相关的表型变异性，并强调需要进一步研究针对TRPM3相关病症的有效治疗策略。
