New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-10-23 DOI:10.1002/ajmg.b.33015
Graziana Ceraolo, Giulia Spoto, Ambra Butera, Maria Spanò, Mirella Vinci, Girolamo Aurelio Vitello, Antonino Musumeci, Francesco Calì, Antonio Gennaro Nicotera, Gabriella Di Rosa
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Abstract

TRMT10A is related to a syndrome characterized by early-onset diabetes mellitus, microcephaly, epilepsy, and intellectual disability. We report a case of a patient showing spastic-ataxic paraparesis and Dandy-Walker variant associated with a causative homozygous c.421-1G > A variant in the TRMT10A gene, affecting a canonical splicing site. This mutation disrupts the "SAM-dependent methyltransferase TRM10-type domain", which is implicated in methylation and S-adenosylmethionine metabolic biological processes, crucial for mitochondrial and glucose metabolism. The prominent neurological involvement of our patient enhances the implication of TRMT10A in the brain development, suggesting a potential association between TRMT10A variants and dominant neurological phenotypes. This case expands the clinical spectrum of TRMT10A syndrome highlighting the importance of considering this gene in the evaluation of patients with brain/cerebellar malformations and spastic-ataxic paraparesis. Further research is warranted to elucidate the underlying pathogenic mechanisms and potential therapeutic implications.

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对 TRMT10A 综合征的新认识:病例报告和文献综述
TRMT10A 与一种以早发糖尿病、小头畸形、癫痫和智力障碍为特征的综合征有关。我们报告了一例表现为痉挛性共济失调性截瘫和 Dandy-Walker 变异的患者,其病因与 TRMT10A 基因中的一个同源基因 c.421-1G > A 变异有关,该变异影响了一个典型的剪接位点。该基因突变破坏了 "SAM 依赖性甲基转移酶 TRM10 型结构域",而该结构域与甲基化和 S-腺苷蛋氨酸代谢生物过程有关,对线粒体和葡萄糖代谢至关重要。本例患者突出的神经系统受累增强了 TRMT10A 在大脑发育中的作用,提示 TRMT10A 变体与显性神经系统表型之间可能存在关联。该病例扩大了 TRMT10A 综合征的临床范围,强调了在评估脑/小脑畸形和痉挛性截瘫患者时考虑该基因的重要性。我们有必要开展进一步的研究,以阐明潜在的发病机制和潜在的治疗意义。
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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
期刊最新文献
Issue Information - TOC Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal. Optimizing the Prediction of Depression Remission: A Longitudinal Machine Learning Approach. New Insights Into TRMT10A Syndrome: Case Report and Literature Review. Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
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