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首页> 外文期刊>American Journal of Clinical Medicine Research >First Report of Missense Mutation at c.1664A>G (p.Y555C) in Krabbe Disease: Genomic Analysis in the Diagnosis of Genetic Disorders
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First Report of Missense Mutation at c.1664A>G (p.Y555C) in Krabbe Disease: Genomic Analysis in the Diagnosis of Genetic Disorders

机译：Krabbe病在c.1664A> G（p.Y555C）发生的错义突变的首次报道：遗传疾病诊断中的基因组分析

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OBJECTIVES: Genetic disorders contribute to severe morbidity and mortality among neonates and children. Most of these conditions could be attributed to the inheritance of defective gene/chromosome from the parents. Consanguinity, or coming from the same ancestral lineage is considered as a predisposing factor for the development of genetic anomalies. Krabbe disease or globoid cell leukodystrophy is an autosomal recessive disorder due to the mutation of the gene coding for galactosyl ceramidase or galactocerebrosidase (GALC gene). We present a brief report of Krabbe disease attributed to a missense mutation at C.1664A>G (p.Y555C) in exon 14, which was previously not reported in the literature as a pathogenic variant. METHODS: A combination of clinical symptoms and laboratory diagnostic methods were used to diagnose the Krabbe disease/globoid cell leukodystrophy. The deoxyribonucleic acid (DNA) sequencing for GALC gene and flanking intronic regions and an enzyme analysis was done to confirm Krabbe disease. Mutational analysis of GALC gene and flanking intronic regions was performed (Sequence analysis of 12 exons (exons-2, 3, 4, 6, 8, 9, 11, 12, 13, 14, 15, 16and18). RESULTS: A homozygous silent mutation at c.1350C>T (p.5450S) in exon 13, a homozygous missense mutation at c.1664C >G (p.Y555C) in exon 14, homozygous silent mutation at c. 1685T>C (p. I562I) in exon 15, homozygous silent mutation at c. 1698A>T (p. V566V) in exon 15, and a homozygous intronic variant IVS15+5C>G was observed. CONCLUSION: A homozygous missense mutation at c.1664C >G (p.Y555C) in exon 14 was observed along with undetectable enzyme activities of β-galactocerebrosidase for the first time in a patient with Krabbe disease.
机译：目的：遗传疾病导致新生儿和儿童的严重发病和死亡。这些情况大多数可以归因于父母的缺陷基因/染色体的遗传。血缘关系或来自相同的祖先血统被认为是遗传异常发生的诱因。由于半乳糖基神经酰胺酶或半乳糖脑苷脂酶（GALC基因）编码基因的突变，Krabbe病或球状细胞性白细胞营养不良是一种常染色体隐性遗传疾病。我们提出了简短的克拉伯病报告，其归因于第14外显子在C.1664A> G（p.Y555C）处的错义突变，以前在文献中没有作为致病变体报道过。方法：结合临床症状和实验室诊断方法来诊断Krabbe病/球状细胞白细胞营养不良。对GALC基因和侧翼内含子区域进行脱氧核糖核酸（DNA）测序，并进行了酶分析以确认Krabbe病。进行了GALC基因和侧翼内含子区域的突变分析（12个外显子的序列分析（外显子2、3、4、6、8、9、11、12、13、14、15、16和18）。外显子13中c.1350C> T（p.5450S）的突变，外显子14中c.1664C> G（p.Y555C）的纯合错义突变，c。1685T> C（p。I562I）的纯合沉默突变。外显子15，在外显子15的c。1698A> T（p。V566V）处发生纯合沉默突变，并观察到纯合内含子变异体IVS15 + 5C> G。结论：c.1664C> G（p.Y555C）出现纯合错义突变）在Krabbe病患者中首次观察到外显子14中的）和无法检测到的β-半乳糖脑苷脂酶活性。

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