Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.

Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. Eur J Med Genet. 2020 Apr 26;:103898 Authors: Hu C, Li X, Zhao L, Shi Y, Wu B, Zhou S, Wang Y Abstract Mitochondrial disorders (MDs) are genetic ailments affecting all age groups. Epidemiological data and frequencies of gene mutations in pediatric patients in China are scarce. This retrospective study assessed 101 patients with suspected MDs treated at the Neurology Department of Children's Hospital, Fudan University, in 2011-2017. Mitochondrial (mtDNA) and nuclear (nDNA) samples were assessed by long-range polymerase chain reaction (PCR)-based whole mtDNA sequencing and whole exome sequencing (WES) for identifying pathogenic mutations. Muscle samples underwent various staining protocols and immunofluorescence for detecting selected proteins. Seventeen mutations in the MT-TL1, MT-COX2, MT-ND4, MT, tRNA TRNE, MT-TN, MT-TK, MT-ATP6, MT-ND6, MT-ND3 and MT-CO3 genes were identified in 39 patients, of which m.3243A  >  G, m.3303C  >  T, m.8993T  >  C/G, m.9176T  >  C, and m.10191T  >  C were most common. Mitochondrial myopathy and MELAS were most common in m.3243A  >  G mutant individuals. Four novel mutations were detected, including m.9478insT, m.5666T  >  C, m.8265T  >  C, and m.8380-13600 deletion mutations related to Leigh syndrome, mitochondrial myopat...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research