Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.
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一个具有线粒体 A1555G 新突变的中国家庭的临床和分子发现
DOI：
10.1186/s12920-022-01276-y
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发表时间：
2022-05-25
影响因子：
2.7
通讯作者：
中科院分区：
文献类型：
--
作者：
线粒体12S rRNA A1555G突变是最常见的导致肥胖的线粒体DNA（mtDNA）突变，并且是母系遗传的。研究表明，A1555G突变有多个起源，尽管没有直接证据证明这一点。在这里，我们确定了一个家庭与从头A1555G突变。基于使用对突变mtDNA具有1%灵敏度的下一代测序对家族成员进行的详细mtDNA分析，定量血液DNA样本中A1555G突变方面的异质性水平。一个人窝藏异质A1555G突变，在28.68%异质性。该个体的儿子也是异质性携带者，异质性为7.25%。该个体的兄弟和母亲没有携带A1555G突变，并且两者的线粒体12S rRNA A1555G异质性均小于1%。A1555G突变在这个家族中重新出现。这是第一次报告的一个家庭与从头A1555G突变，提供了直接的证据，其多点起源。这对诊断调查和遗传咨询都很重要。
The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there is no direct evidence of this. Here, we identified a family with a de novo A1555G mutation. Based on detailed mtDNA analyses of the family members using next-generation sequencing with 1% sensitivity to mutated mtDNA, the level of heteroplasmy in terms of the A1555G mutation in blood DNA samples was quantified. An individual harbored a heterogeneous A1555G mutation, at 28.68% heteroplasmy. The individual’s son was also a heterogeneous carrier, with 7.25% heteroplasmy. The individual’s brother and mother did not carry the A1555G mutation, and both had less than 1% mitochondrial 12S rRNA A1555G heteroplasmy. The A1555G mutation arose de novo in this family. This is the first report of a family with a de novo A1555G mutation, providing direct evidence of its multipoint origin. This is important for both diagnostic investigations and genetic counselling.
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影响因子：
5.4
作者：
Guaran V;Astolfi L;Castiglione A;Simoni E;Olivetto E;Galasso M;Trevisi P;Busi M;Volinia S;Martini A
通讯作者：
Martini A
影响因子：
5.1
作者：
Skou, Anne-Sofie;Tranebjrg, Lisbeth;Hasle, Henrik
通讯作者：
Hasle, Henrik
影响因子：
2.2
作者：
Jiang, Hua;Chen, Jia;Yang, Bei-Bei
通讯作者：
Yang, Bei-Bei
影响因子：
4.4
作者：
Lu, Jianxin;Qian, Yaping;Li, Zhiyuan;Yang, Aifen;Zhu, Yi;Li, Ronghua;Yang, Li;Tang, Xiaowen;Chen, Bobei;Ding, Yu;Li, Yongyan;You, Junyan;Zheng, Jing;Tao, Zhihua;Zhao, Fuxin;Wang, Jindan;Sun, Dongmei;Zhao, Jianyue;Meng, Yanzi;Guan, Min-Xin
通讯作者：
Guan, Min-Xin
影响因子：
3.9
作者：
Ruiz-Pesini, Eduardo;Wallace, Douglas C.
通讯作者：
Wallace, Douglas C.