全基因组联合分析鉴定罕见的非编码致病变异- 1例儿童线粒体疾病病例报告

Q4 Medicine

Lijecnicki vjesnik Pub Date : 2023-04-23 DOI:10.26800/lv-145-supl2-cr79

Dina Gržan, Marjan Kulaš, Lea Jukić, Petra Sulić, M. Ćuk

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引用次数: 0

摘要

基因组是在“CroSeq基因组库”项目下完成的。结果，在纯合子组成中的NDUFS7基因中发现了一种罕见的非编码致病变体，她被诊断为MC1DN3。这种常染色体隐性遗传疾病会导致线粒体能量产生功能障碍，其临床过程具有异质性和不可预测性，需要对症治疗。结论：随着诊断方法的发展

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Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease

genome was done under the “CroSeq-GenomeBank” project. As a result, a rare non-coding causative variant in the NDUFS7 gene in the homozygous composition was identified, and she was diagnosed with MC1DN3. This autosomal recessive disease causes dysfunction of energy production in the mitochondria with a heterogenous and unpredictable clinical course with symptomatic treatment. CONCLUSION: With the evolution of diagnostic methods

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来源期刊

Lijecnicki vjesnik Medicine-Medicine (all)

CiteScore

0.20

自引率

0.00%

发文量

117