Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth

被引：7

作者：

Isohanni, Pirjo ^{[1
,2
,3
]}

Carroll, Christopher J. ^{[3
]}

Jackson, Christopher B. ^{[3
]}

Pohjanpelto, Max ^{[3
]}

Lonnqvist, Tuula ^{[1
,2
]}

Suomalainen, Anu ^{[3
,4
]}

机构：

[1] Univ Helsinki, Childrens Hosp, Dept Child Neurol, Helsinki, Finland

[2] Helsinki Univ Hosp, Helsinki, Finland

[3] Univ Helsinki, Res Programs Unit, Mol Neurol, Biomedicum Helsinki, Helsinki, Finland

[4] Univ Helsinki, Neurosci Ctr, Helsinki, Finland

来源：

NEUROGENETICS | 2018年 / 19卷 / 01期

基金：

芬兰科学院;

关键词：

Mitochondrial diseases; Mitochondrial DNA; Intellectual disability; Lactic acidosis; OXIDATIVE-PHOSPHORYLATION; ATP6; GENE; DEFICIENCY; DISEASE; ATAXIA;

D O I：

10.1007/s10048-018-0537-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G > A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G > A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability. Our findings expand the phenotypic spectrum and show that mtDNA mutations should be taken account also with milder, stable phenotypes.

引用

页码：49 / 53

页数：5

共 15 条

[1] 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 [J].