The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Kose, Melis; IŞIK, ESRA; AYKUT, AYÇA; DURMAZ, ASUDE; Kose, ENGİN; Ersoy, Melike; Diniz, Gulden; Adebali, Ogun; Unalp, Aycan; Yilmaz, Unsal; Karaoglu, PAKİZE; Edizer, Selvinaz; Tekin, Hande; Ozdemir, Taha; ATİK, TAHİR; Onay, Huseyin; Ozkinay, Ferda

doi:10.1515/jpem-2020-0410

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

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Kose M., IŞIK E., AYKUT A., DURMAZ A., Kose E., Ersoy M., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.4, pp.417-430, 2021 (SCI-Expanded)

Publication Type: Article / Article
Volume: 34 Issue: 4
Publication Date: 2021
Doi Number: 10.1515/jpem-2020-0410
Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
Page Numbers: pp.417-430
Keywords: Leigh syndrome, Mendelian mitochondrial disorder, next-generation sequencing, nuclear mitochondrial disorders, whole exome sequencing
Dokuz Eylül University Affiliated: Yes

Abstract

Objectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD.