Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

被引：10

作者：

Berhe, Simon ^{[1
]}

Heeney, Matthew M. ^{[2
]}

Campagna, Dean R. ^{[1
]}

Thompson, John F. ^{[3
]}

White, Eric J. ^{[3
]}

Ross, Tristen ^{[3
]}

Peake, Roy W. A. ^{[4
]}

Hanrahan, Jeffery D. ^{[5
]}

Rodriguez, Vilmarie ^{[6
]}

Renaud, Deborah L. ^{[6
,7
]}

Patnaik, Mrinal S. ^{[8
]}

Chang, Eugenia ^{[9
]}

Bottomley, Sylvia S. ^{[10
]}

Fleming, Mark D. ^{[1
,2
]}

机构：

[1] Boston Childrens Hosp, Dept Pathol, Boston, MA 02115 USA

[2] Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA 02115 USA

[3] Claritas Genom, Cambridge, MA USA

[4] Boston Childrens Hosp, Dept Lab Med, Boston, MA USA

[5] Driscoll Childrens Hosp, Corpus Christi, TX USA

[6] Mayo Clin, Dept Pediat, Rochester, MN USA

[7] Mayo Clin, Dept Neurol, Rochester, MN USA

[8] Mayo Clin, Dept Med, Rochester, MN USA

[9] St Lukes Hlth Syst, Boise, ID USA

[10] Univ Oklahoma, Coll Med, Dept Med, Norman, OK 73019 USA

来源：

HAEMATOLOGICA | 2018年 / 103卷 / 12期

关键词：

TRANSFER-RNA SYNTHETASE; LACTIC-ACIDOSIS; MITOCHONDRIAL MYOPATHY; IDENTIFICATION; YARS2; GENE;

D O I：

10.3324/haematol.2018.199109

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：E561 / E563

页数：3

共 15 条

[1] Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels [J].

Albuisson, Juliette ;

Murthy, Swetha E. ;

Bandell, Michael ;

Coste, Bertrand ;

Louis-dit-Picard, Helene ;

Mathur, Jayanti ;

Feneant-Thibault, Madeleine ;

Tertian, Gerard ;

de Jaureguiberry, Jean-Pierre ;

Syfuss, Pierre-Yves ;

Cahalan, Stuart ;

Garcon, Loic ;

Toutain, Fabienne ;

Rohrlich, Pierre Simon ;

Delaunay, Jean ;

Picard, Veronique ;

Jeunemaitre, Xavier ;

Patapoutian, Ardem .

NATURE COMMUNICATIONS, 2013, 4

[2] Systematic Molecular Genetic Analysis of Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations [J].

Bergmann, Anke K. ;

Campagna, Dean R. ;

McLoughlin, Erin M. ;

Agarwal, Suneet ;

Fleming, Mark D. ;

Bottomley, Sylvia S. ;

Neufeld, Ellis J. .

PEDIATRIC BLOOD & CANCER, 2010, 54 (02) :273-278

[3] Sideroblastic Anemia Diagnosis and Management [J].

Bottomley, Sylvia S. ;

Fleming, Mark D. .

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 2014, 28 (04) :653-+

[4] 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].

Burrage, Lindsay C. ;

Tang, Sha ;

Wang, Jing ;

Donti, Taraka R. ;

Walkiewicz, Magdalena ;

Luchak, J. Michael ;

Chen, Li-Chieh ;

Schmitt, Eric S. ;

Niu, Zhiyv ;

Erana, Rodrigo ;

Hunter, Jill V. ;

Graham, Brett H. ;

Wong, Lee-Jun ;

Scaglia, Fernando .

MOLECULAR GENETICS AND METABOLISM, 2014, 113 (03) :207-212

[5] ATP Synthase Diseases of Mitochondrial Genetic Origin [J].

Dautant, Alain ;

Meier, Thomas ;

Hahn, Alexander ;

Tribouillard-Tanvier, Deborah ;

di Rago, Jean-Paul ;

Kucharczyk, Roza .

FRONTIERS IN PHYSIOLOGY, 2018, 9

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

Isohanni, Pirjo ;

Carroll, Christopher J. ;

Jackson, Christopher B. ;

Pohjanpelto, Max ;

Lonnqvist, Tuula ;

Suomalainen, Anu .

NEUROGENETICS, 2018, 19 (01) :49-53

[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 [J].

Jiang, Pingping ;

Jin, Xiaofen ;

Peng, Yanyan ;

Wang, Meng ;

Liu, Hao ;

Liu, Xiaoling ;

Zhang, Zengjun ;

Ji, Yanchun ;

Zhang, Juanjuan ;

Liang, Min ;

Zhao, Fuxin ;

Sun, Yan-Hong ;

Zhang, Minglian ;

Zhou, Xiangtian ;

Chen, Ye ;

Mo, Jun Qin ;

Huang, Taosheng ;

Qu, Jia ;

Guan, Min-Xin .

HUMAN MOLECULAR GENETICS, 2016, 25 (03) :584-596

[8] A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia [J].

Lichtenstein, Daniel A. ;

Crispin, Andrew W. ;

Sendamarai, Anoop K. ;

Campagna, Dean R. ;

Schmitz-Abe, Klaus ;

Sousa, Cristovao M. ;

Kafina, Martin D. ;

Schmidt, Paul J. ;

Niemeyer, Charlotte M. ;

Porter, John ;

May, Alison ;

Patnaik, Mrinal M. ;

Heeney, Matthew M. ;

Kimmelman, Alec ;

Bottomley, Sylvia S. ;

Paw, Barry H. ;

Markianos, Kyriacos ;

Fleming, Mark D. .

BLOOD, 2016, 128 (15) :1913-1917

[9] NEW SYNDROME OF REFRACTORY SIDEROBLASTIC ANEMIA WITH VACUOLIZATION OF MARROW PRECURSORS AND EXOCRINE PANCREATIC DYSFUNCTION [J].

PEARSON, HA ;

LOBEL, JS ;

KOCOSHIS, SA ;

NAIMAN, JL ;

WINDMILLER, J ;

LAMMI, AT ;

HOFFMAN, R ;

MARSH, JC .

JOURNAL OF PEDIATRICS, 1979, 95 (06) :976-984

[10] Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome [J].

Riley, Lisa G. ;

Cooper, Sandra ;

Hickey, Peter ;

Rudinger-Thirion, Joelle ;

McKenzie, Matthew ;

Compton, Alison ;

Lim, Sze Chern ;

Thorburn, David ;

Ryan, Michael T. ;

Giege, Richard ;

Bahlo, Melanie ;

Christodoulou, John .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (01) :52-59

← 1 2 →

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G&gt;A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity