Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

被引：8

作者：

van der Ven, Amelie T. ^{[1
]}

Johannsen, Jessika ^{[2
]}

Kortuem, Fanny ^{[1
]}

Wagner, Matias ^{[3
,4
]}

Tsiakas, Konstantinos ^{[2
]}

Bierhals, Tatjana ^{[1
]}

Lessel, Davor ^{[1
]}

Herget, Theresia ^{[1
]}

Kloth, Katja ^{[1
]}

Lisfeld, Jasmin ^{[1
]}

Scholz, Tasja ^{[1
]}

Obi, Nadia ^{[5
]}

Wortmann, Saskia ^{[3
,4
,6
]}

Prokisch, Holger ^{[3
,4
]}

Kubisch, Christian ^{[1
,7
]}

Denecke, Jonas ^{[2
]}

Santer, Rene ^{[2
,7
]}

Hempel, Maja ^{[1
,7
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20251 Hamburg, Germany

[2] Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany

[3] TUM, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany

[4] Helmholtz Ctr Munich, Inst Neurogen, Neuherberg, Germany

[5] Univ Med Ctr Hamburg Eppendorf, Inst Med Biometry & Epidemiol, Hamburg, Germany

[6] Univ Med Ctr Salzburg, Dept Pediat, Salzburg, Austria

[7] Univ Med Ctr Hamburg Eppendorf, Martin Zeitz Ctr Rare Dis, Hamburg, Germany

来源：

CLINICAL GENETICS | 2021年 / 100卷 / 06期

关键词：

child development disorders; early diagnosis; medical genetics; mitochondria; whole exome sequencing; DIAGNOSTIC-CRITERIA; GENETICS; DISEASE;

D O I：

10.1111/cge.14061

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms, a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.

引用

页码：766 / 770

页数：5

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