TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
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DOI：
10.1038/s41436-018-0137-y
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发表时间：
2019-03
期刊：
影响因子：
--
通讯作者：
Mefford HC
中科院分区：
文献类型：
--
作者：
Dines JN;Golden-Grant K;LaCroix A;Muir AM;Cintrón DL;McWalter K;Cho MT;Sun A;Merritt JL;Thies J;Niyazov D;Burton B;Kim K;Fleming L;Westman R;Karachunski P;Dalton J;Basinger A;Ficicioglu C;Helbig I;Pendziwiat M;Muhle H;Helbig KL;Caliebe A;Santer R;Becker K;Suchy S;Douglas G;Millan F;Begtrup A;Monaghan KG;Mefford HC
TANGO2相关障碍于2016年首次被描述，在本论文发表之前，文献中只描述了15名TANGO2相关障碍患者。主要特征包括横纹肌溶解的代谢危象、脑病、智力残疾、癫痫发作和心律失常。我们评估了自最初发现以来，TANGO2相关疾病的基因型和表型是否扩大了，并确定了外显子组测序(ES)作为检测变异的诊断工具的有效性。我们介绍了来自11个有复杂病史和发育史的无关家族的14个个体，在这些个体中，ES或微阵列发现了TANGO2的复合杂合或纯合变异体。TANGO2相关疾病患者的初始表现可能是多种多样的，主要包括神经系统表现。我们扩展了TANGO2的表型和基因型，突出了该疾病的可变性。与TANGO2相关的疾病可能具有比先前预期更多样化的临床表现。我们说明了常规ES数据再分析的实用性，即发现新的疾病基因可以导致以前未解决的病例的诊断，以及在执行ES时需要进行额外的拷贝数变异分析。
TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. We assess whether genotype and phenotype of TANGO2-related disorder has expanded since the initial discovery and determine the efficacy of exome sequencing (ES) as a diagnostic tool for detecting variants. We present a series of 14 individuals from 11 unrelated families with complex medical and developmental histories, in whom ES or microarray identified compound heterozygous or homozygous variants in TANGO2. The initial presentation of patients with TANGO2-related disorders can be variable, including primarily neurological presentations. We expand the phenotype and genotype for TANGO2, highlighting the variability of the disorder. TANGO2-related disorders can have a more diverse clinical presentation than previously anticipated. We illustrate the utility of routine ES data reanalysis whereby discovery of novel disease genes can lead to a diagnosis in previously unsolved cases and the need for additional copy-number variation analysis when ES is performed.
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影响因子：
9.8
作者：
Kremer, Laura S.;Distelmaier, Felix;Haack, Tobias B.
通讯作者：
Haack, Tobias B.
DOI：
10.1056/nejmoa1516767
发表时间：
2017-01-05
期刊：
The New England journal of medicine
影响因子：
--
作者：
Posey JE;Harel T;Liu P;Rosenfeld JA;James RA;Coban Akdemir ZH;Walkiewicz M;Bi W;Xiao R;Ding Y;Xia F;Beaudet AL;Muzny DM;Gibbs RA;Boerwinkle E;Eng CM;Sutton VR;Shaw CA;Plon SE;Yang Y;Lupski JR
通讯作者：
Lupski JR
影响因子：
12.3
作者：
Eldomery MK;Coban-Akdemir Z;Harel T;Rosenfeld JA;Gambin T;Stray-Pedersen A;Küry S;Mercier S;Lessel D;Denecke J;Wiszniewski W;Penney S;Liu P;Bi W;Lalani SR;Schaaf CP;Wangler MF;Bacino CA;Lewis RA;Potocki L;Graham BH;Belmont JW;Scaglia F;Orange JS;Jhangiani SN;Chiang T;Doddapaneni H;Hu J;Muzny DM;Xia F;Beaudet AL;Boerwinkle E;Eng CM;Plon SE;Sutton VR;Gibbs RA;Posey JE;Yang Y;Lupski JR
通讯作者：
Lupski JR
影响因子：
8.8
作者：
Retterer, Kyle;Scuffins, Julie;Haverfield, Eden
通讯作者：
Haverfield, Eden
影响因子：
9.8
作者：
Lalani, Seema R.;Liu, Pengfei;Yang, Yaping
通讯作者：
Yang, Yaping