Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report

IF 4.6 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
C. Samhani , B. Guerci , C. Larose
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Abstract

It is notable that monogenic forms of diabetes are exceedingly uncommon, with only 28 genes thus far identified. Such conditions frequently result in the dysfunction of pancreatic cells responsible for insulin production. Mutation in the TRMT10A gene leads to a rare genetic disease that is associated with endocrine and metabolic disorders, including diabetes and short stature. This article presents a review of the existing literature on the subject, describing the association between TRMT10A gene mutation and diabetes. It also presents the clinical case of a young girl with type 1 diabetes and facial dysmorphia. TRMT10A gene mutation has been linked to syndromic juvenile diabetes in a manner analogous to Wolfram's syndrome. This form of diabetes, which manifests in early childhood and is associated with microcephaly, epilepsy and intellectual disability, is caused by mutations in the gene for homolog A of tRNA methyltransferase 10 (TRMT10A).

This emphasizes the importance of using a targeted panel to recognize previously unidentified monogenic diabetes among early-onset non-insulin-dependent diabetes in the absence of obesity and autoimmunity.

In view of the aforementioned data, it is recommended that TRMT10A sequencing be considered in children or adults with early-onset diabetes and a history of intellectual disability, microcephaly and epilepsy.

在一例非典型糖尿病患者中发现 TRMT10A 突变:病例报告。
值得注意的是,单基因糖尿病极为罕见,迄今只发现了 28 个基因。这种情况经常导致负责产生胰岛素的胰腺细胞功能失调。TRMT10A 基因突变会导致一种罕见的遗传疾病,这种疾病与内分泌和代谢紊乱有关,包括糖尿病和身材矮小。本文回顾了现有的相关文献,描述了 TRMT10A 基因突变与糖尿病之间的关联。文章还介绍了一名患有 1 型糖尿病和面部畸形的年轻女孩的临床病例。TRMT10A 基因突变与综合征性青少年糖尿病有关联,其方式类似于沃尔夫拉姆综合征。这种糖尿病在儿童早期出现,与小头畸形、癫痫和智力障碍有关,是由 tRNA 甲基转移酶 10 的同源物 A(TRMT10A)基因突变引起的。这就强调了在没有肥胖和自身免疫的情况下,使用靶向面板识别早发性非胰岛素依赖型糖尿病中以前未识别的单基因糖尿病的重要性。鉴于上述数据,建议考虑对患有早发糖尿病并有智力障碍、小头畸形和癫痫病史的儿童或成人进行 TRMT10A 测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Diabetes & metabolism
Diabetes & metabolism 医学-内分泌学与代谢
CiteScore
12.00
自引率
4.20%
发文量
86
审稿时长
13 days
期刊介绍: A high quality scientific journal with an international readership Official publication of the SFD, Diabetes & Metabolism, publishes high-quality papers by leading teams, forming a close link between hospital and research units. Diabetes & Metabolism is published in English language and is indexed in all major databases with its impact factor constantly progressing. Diabetes & Metabolism contains original articles, short reports and comprehensive reviews.
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