Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2022-07-01 DOI:10.1097/MCD.0000000000000411

Bahadir M Samur, Gülsüm Gümüş, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ahmet Okay Cağlayan

引用次数: 0

Abstract

Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.

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硫胺素代谢功能障碍综合征的临床和遗传学研究-4:病例系列和文献综述。

硫胺素代谢功能障碍综合征-4 (THMD-4)是一种常染色体隐性遗传罕见病(omim# 613710)，以发热性疾病相关的发作性脑病为特征，导致一过性神经功能障碍和进行性多神经病变。我们报告了来自两个不同家庭的三名患者，他们发育正常，发作性脑病，步态障碍，进行性慢性多神经病变，其特征是运动困难，远端无力和声音嘶哑(语音障碍)。通过全外显子组测序，我们在两个家族的SLC25A19基因中发现了一个纯合错义C . 576g >C, p.(Gln192His)变异。基因诊断后，开始进行硫胺素替代治疗，所有受影响的患者均有改善。我们强调了导致THMD-4临床特征的SCL25A19突变的相关表型。

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

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.