First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W: a case report
First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W: a case report
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首例 MPV17 相关线粒体 DNA 耗竭综合征，伴有 p.R50Q/p.R50W 复合杂合突变：病例报告
DOI：
10.20517/2394-5079.2019.030
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
T. Fujisawa
中科院分区：
文献类型：
--
作者：
Shuichiro Umetsu;A. Inui;Sohya Kobayashi;Masaru Shimura;Tomoko Uehara;H. Uchida;R. Irie;T. Sogo;H. Komatsu;T. Yoshioka;K. Murayama;K. Kosaki;M. Kasahara;T. Fujisawa
MPV 17的突变导致严重的线粒体DNA耗竭综合征（MTDPS）。MPV 17中所有已知的p.R50W变体都是致命的。已知纳瓦霍神经肝病患者中MPV 17的纯合变体p.R50Q允许更长的生存期，尽管尚未报道杂合变体p.R50Q。这是第一个临床报告的复合杂合性MPV 17突变（p.R50W/p.R50Q）。三名兄弟姐妹因多发性肝结节入院;无神经系统异常。然而，他们患有严重的低血糖和周期性呕吐。通过检测复合杂合MPV 17突变（p.R50W/p.R50Q）和肝线粒体DNA显著减少，证实了MPV 17相关MTDPS的诊断。1例患者发生儿童期肝细胞癌。值得注意的是，所有患者都存活了很长一段时间，包括两名接受肝移植的患者，这与先前报道的与p.R50W突变相关的高死亡率形成了对比。p.R50Q突变可能与更长的生存期和改善的肝移植结果相关。第2页，共10页Umetsu et al. Hepatoma Res 2020;6：1 I http://dx.doi.org/10.20517/2394-5079.2019.030
Mutations in MPV17 lead to severe mitochondrial DNA depletion syndrome (MTDPS). All known p.R50W variants in MPV17 are lethal. The homozygous variant p.R50Q in MPV17 among patients with Navajo neurohepatopathy is known to allow longer survival, although heterozygous variants p.R50Q have not been reported. This is the first clinical report in compound heterozygosity MPV17 mutation (p.R50W/p.R50Q). Three siblings were admitted due to multiple hepatic nodules; none presented neurological abnormalities. However, they suffered from severe hypoglycemia and cyclic vomiting. The diagnosis of MPV17-related MTDPS was confirmed by detection of a compound heterozygous MPV17 mutation (p.R50W/p.R50Q), and striking reduction of hepatic mitochondrial DNA. One patient developed pediatric-onset of hepatocellular carcinoma. Notably, all patients survived for extended periods, including two patients who received liver transplantation, which contrasted the high mortality rate associated with p.R50W mutations, as previously reported. The p.R50Q mutation might be associated with longer survival and improved liver transplantation outcomes. Page 2 of 10 Umetsu et al. Hepatoma Res 2020;6:1 I http://dx.doi.org/10.20517/2394-5079.2019.030
影响因子：
5.1
作者：
Al-Hussaini, Abdulrahman;Faqeih, Eissa;Taylor, Robert W.
通讯作者：
Taylor, Robert W.