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Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia / 中华医学遗传学杂志
Article 在 Zh | WPRIM | ID: wpr-247722
Responsible library: WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).</p><p><b>METHODS</b>Potential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.</p><p><b>RESULTS</b>Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.</p><p><b>CONCLUSION</b>The novel mutations of MUT gene probably underlie the isolated MMA in this family.</p>
Subject(s)
全文: 1 索引: WPRIM 主要主题: Pedigree / Molecular Sequence Data / Base Sequence / China / Sequence Alignment / Amino Acid Sequence / Point Mutation / Mutation, Missense / Asian People / Genetics 研究类型: Diagnostic_studies 限制: Animals / Female / Humans / Male 国家/地区名称主题: Asia 语言: Zh 期刊: Chinese Journal of Medical Genetics 年: 2016 类型: Article
全文: 1 索引: WPRIM 主要主题: Pedigree / Molecular Sequence Data / Base Sequence / China / Sequence Alignment / Amino Acid Sequence / Point Mutation / Mutation, Missense / Asian People / Genetics 研究类型: Diagnostic_studies 限制: Animals / Female / Humans / Male 国家/地区名称主题: Asia 语言: Zh 期刊: Chinese Journal of Medical Genetics 年: 2016 类型: Article