Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
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DOI：
10.1038/s41431-021-00887-w
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发表时间：
2021-10
期刊：
影响因子：
--
通讯作者：
Khalaf-Nazzal R
中科院分区：
文献类型：
--
作者：
Lin S;Fasham J;Al-Hijawi F;Qutob N;Gunning A;Leslie JS;McGavin L;Ubeyratna N;Baker W;Zeid R;Turnpenny PD;Crosby AH;Baple EL;Khalaf-Nazzal R
孤立的线粒体复合体II缺陷是一种罕见的线粒体呼吸链疾病的原因。到目前为止，编码线粒体复合体II分子成分的三个基因的双等位变异与线粒体疾病(SDHA/SDHB/SDHAF1)明确相关。此外，在两个与线粒体疾病临床特征一致的个体中，一个进一步的复合体II组分(SDHD)的变异被确定为孤立的线粒体复合体II缺陷的候选原因，包括进行性脑肌病和致死性婴儿心肌病。我们介绍了来自一个巴勒斯坦大家庭的四个人的临床和基因组研究，这些人的临床特征符合常染色体隐性遗传性线粒体复合体II缺陷，其中我们的基因组研究发现NM_003002.3:c.[205 G >； A]；[205 G >； A]；p.[(Glu69Lys)]；[(Glu69Lys)]SDHD纯合子变异是可能的原因。回顾以前发表的病例，这些发现巩固了SDHD功能中断作为线粒体复合体II缺陷的原因，并进一步定义了与SDHD基因变异相关的表型谱。
Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency in just two unrelated affected individuals with clinical features consistent with mitochondrial disease, including progressive encephalomyopathy and lethal infantile cardiomyopathy. We present clinical and genomic investigations in four individuals from an extended Palestinian family with clinical features consistent with an autosomal recessive mitochondrial complex II deficiency, in which our genomic studies identified a homozygous NM_003002.3:c.[205 G > A];[205 G > A];p.[(Glu69Lys)];[(Glu69Lys)] SDHD variant as the likely cause. Reviewing previously published cases, these findings consolidate disruption of SDHD function as a cause of mitochondrial complex II deficiency and further define the phenotypic spectrum associated with SDHD gene variants.
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DOI：
10.1093/bioinformatics/bts526
发表时间：
2012-11-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Plagnol V;Curtis J;Epstein M;Mok KY;Stebbings E;Grigoriadou S;Wood NW;Hambleton S;Burns SO;Thrasher AJ;Kumararatne D;Doffinger R;Nejentsev S
通讯作者：
Nejentsev S
与成年线粒体疾病有关的核和线粒体DNA突变的患病率。
影响因子：
11.2
作者：
Gorman GS;Schaefer AM;Ng Y;Gomez N;Blakely EL;Alston CL;Feeney C;Horvath R;Yu-Wai-Man P;Chinnery PF;Taylor RW;Turnbull DM;McFarland R
通讯作者：
McFarland R
影响因子：
4
作者：
Alston CL;Davison JE;Meloni F;van der Westhuizen FH;He L;Hornig-Do HT;Peet AC;Gissen P;Goffrini P;Ferrero I;Wassmer E;McFarland R;Taylor RW
通讯作者：
Taylor RW
影响因子：
2
作者：
Jain-Ghai, Shailly;Cameron, Jessie M.;Raiman, Julian
通讯作者：
Raiman, Julian
影响因子：
14.9
作者：
Waterhouse A;Bertoni M;Bienert S;Studer G;Tauriello G;Gumienny R;Heer FT;de Beer TAP;Rempfer C;Bordoli L;Lepore R;Schwede T
通讯作者：
Schwede T