Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.

IF 2.1 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemical Genetics Pub Date : 2025-04-02 DOI:10.1007/s10528-025-11090-7

Sheyda Khalilian, Mohadeseh Fathi, Mona Alizadeh, Fatemeh Larki Darabi, Shadab Salehpour, Saeed Anvari, Mohammad Miryounesi, Soudeh Ghafouri-Fard

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引用次数: 0

Abstract

Gangliosidosis is a hereditary metabolic disorder inherited in an autosomal recessive manner. This disorder is marked by the accumulation of gangliosides in the central nervous system, leading to considerable and progressive neurological deficits. In the current study, we described the clinical findings and genetic variations observed in 12 patients manifesting symptoms of gangliosidosis disorders. The results of molecular investigations revealed the presence of different variants in the HEXA (three cases), HEXB (four cases) and GLB1 genes (five cases) in the patients. Notably, the c.833C > T (p.A278V) variant in the HEXB was detected in two unrelated cases. Four novel variants were also detected, including two likely pathogenic variants in the HEXB gene, namely c.1083-2del and c.1616_1622dup (p.Ile541Metfs*14). A single case had three variants in the GLB1 gene, including two novel variants (c.545C > T and c.631G > C); and a previously reported pathogenic variant (c.601C > T). The current study broadens the spectrum of genetic variations in Iranian patients with different types of gangliosidosis. This information is also important for the process of genetic counseling in the affected families.

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伊朗神经节脂质病患者的基因突变谱。

神经节脂质病是一种常染色体隐性遗传的遗传性代谢疾病。这种疾病的特点是中枢神经系统中神经节苷脂的积累，导致相当大的和进行性的神经功能缺损。在目前的研究中，我们描述了12例表现神经节脂质病疾病症状的患者的临床表现和遗传变异。分子调查结果显示，患者的HEXA（3例）、HEXB（4例）和GLB1基因（5例）存在不同的变异。值得注意的是，在两个不相关的病例中检测到c.833C > T （p.A278V）变异。另外还检测到4个新的变异，包括两个可能致病的HEXB基因变异，即c.1083-2del和c.1616_1622dup （p.Ile541Metfs*14）。单个病例有三个GLB1基因变体，包括两个新变体（C . 545c > T和C . 631g > C）；以及先前报道的致病性变异（c.601C > T）。目前的研究拓宽了伊朗不同类型神经节脂质病患者的遗传变异谱。这一信息对受影响家庭的遗传咨询过程也很重要。

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

Biochemical Genetics 生物-生化与分子生物学

CiteScore

3.90

自引率

0.00%

发文量

133

审稿时长

4.8 months

期刊介绍： Biochemical Genetics welcomes original manuscripts that address and test clear scientific hypotheses, are directed to a broad scientific audience, and clearly contribute to the advancement of the field through the use of sound sampling or experimental design, reliable analytical methodologies and robust statistical analyses. Although studies focusing on particular regions and target organisms are welcome, it is not the journal’s goal to publish essentially descriptive studies that provide results with narrow applicability, or are based on very small samples or pseudoreplication. Rather, Biochemical Genetics welcomes review articles that go beyond summarizing previous publications and create added value through the systematic analysis and critique of the current state of knowledge or by conducting meta-analyses. Methodological articles are also within the scope of Biological Genetics, particularly when new laboratory techniques or computational approaches are fully described and thoroughly compared with the existing benchmark methods. Biochemical Genetics welcomes articles on the following topics: Genomics; Proteomics; Population genetics; Phylogenetics; Metagenomics; Microbial genetics; Genetics and evolution of wild and cultivated plants; Animal genetics and evolution; Human genetics and evolution; Genetic disorders; Genetic markers of diseases; Gene technology and therapy; Experimental and analytical methods; Statistical and computational methods.