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

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, Scopus)

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.