Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.
作者信息
Berhe Simon, Heeney Matthew M, Campagna Dean R, Thompson John F, White Eric J, Ross Tristen, Peake Roy W A, Hanrahan Jeffery D, Rodriguez Vilmarie, Renaud Deborah L, Patnaik Mrinal S, Chang Eugenia, Bottomley Sylvia S, Fleming Mark D
机构信息
Department of Pathology, Boston Children's Hospital, MA.
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, MA.
出版信息
Haematologica. 2018 Dec;103(12):e561-e563. doi: 10.3324/haematol.2018.199109. Epub 2018 Jul 13.
Abstract
摘要
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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.患有临床严重程度各异的综合征性先天性铁粒幼细胞贫血患者中MT-ATP6基因p.Ser148Asn（m.8969G>A）突变的复发性异质性。
Haematologica. 2018 Dec;103(12):e561-e563. doi: 10.3324/haematol.2018.199109. Epub 2018 Jul 13.
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本文引用的文献
1
Molecular basis of diseases caused by the mtDNA mutation m.8969G>A in the subunit a of ATP synthase.由线粒体 DNA 突变 m.8969G>A 引起的 ATP 合酶亚基 a 疾病的分子基础。
Biochim Biophys Acta Bioenerg. 2018 Aug;1859(8):602-611. doi: 10.1016/j.bbabio.2018.05.009. Epub 2018 May 18.
2
ATP Synthase Diseases of Mitochondrial Genetic Origin.线粒体遗传起源的ATP合酶疾病
Front Physiol. 2018 Apr 4;9:329. doi: 10.3389/fphys.2018.00329. eCollection 2018.
3
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.由于罕见的 mtDNA m.8969G>A 突变导致的线粒体 ATP 酶缺陷-引起乳酸酸中毒、智力障碍和生长不良。
Neurogenetics. 2018 Jan;19(1):49-53. doi: 10.1007/s10048-018-0537-9. Epub 2018 Jan 19.
4
Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.在一名IgA肾病患者的线粒体ATP6基因中鉴定出G8969>A，该突变严重损害ATP合酶功能。
Sci Rep. 2016 Nov 4;6:36313. doi: 10.1038/srep36313.
5
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.呼吸链复合物1蛋白NDUFB11中的一种复发性突变是一种新型X连锁铁粒幼细胞贫血的病因。
Blood. 2016 Oct 13;128(15):1913-1917. doi: 10.1182/blood-2016-05-719062. Epub 2016 Aug 3.
6
De novo mtDNA point mutations are common and have a low recurrence risk.新发线粒体DNA点突变很常见，复发风险低。
J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22.
7
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.外显子组测序确定，编码线粒体酪氨酸-tRNA合成酶的YARS2中的突变是与Leber遗传性视神经病变相关的线粒体DNA突变表型表现的核修饰因子。
Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8.
8
Sideroblastic anemia: diagnosis and management.铁粒幼细胞贫血：诊断与管理
Hematol Oncol Clin North Am. 2014 Aug;28(4):653-70, v. doi: 10.1016/j.hoc.2014.04.008. Epub 2014 Jun 2.
9
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.线粒体肌病、乳酸性酸中毒和铁粒幼细胞贫血（MLASA）综合征，与线粒体编码的ATP6基因中的一种新的从头突变（m.8969G>A）相关。
Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30.
10
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.与机械激活的 PIEZO1 离子通道功能获得性突变相关的脱水遗传性口炎性腹泻。
Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899.
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