2020
DOI: 10.1016/j.ejmg.2020.103898
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Clinical and molecular characterization of pediatric mitochondrial disorders in south of China

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Cited by 31 publications
(33 citation statements)
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“…In our cohort, 5 mutations in TK2 gene were identified in 3 patients (3/21, 14.3%) by nuclear gene panel, including one common reported c.547C>T (p.R183W) mutation ( 5 ) and 4 novel variants: c.659T>C (p.L220P), c.497A>T (p.D166V), c.328C>T (p.Q110 * ), and c.144_145delTC, which had been interpreted as pathogenic or likely pathogenic according to the ACMG criteria ( 4 ) and have been submitted to the public database ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar , submission number: SUB6664717). Furthermore, analysis of mitochondrial DNA content in muscle tissue of these patients have confirmed remarkable reduction compared to healthy controls (11.30–13.25%) in our previous report ( 15 ). One patient revealed mutations in SURF1 gene, including one missense mutation of c.769G>A(p.Gly257Arg) which had been reported to cause Leigh syndrome ( 16 ) and one novel frameshift mutation of c.752_755del(p.Gln251Profs * 15).…”
Section: Resultssupporting
confidence: 85%
See 1 more Smart Citation
“…In our cohort, 5 mutations in TK2 gene were identified in 3 patients (3/21, 14.3%) by nuclear gene panel, including one common reported c.547C>T (p.R183W) mutation ( 5 ) and 4 novel variants: c.659T>C (p.L220P), c.497A>T (p.D166V), c.328C>T (p.Q110 * ), and c.144_145delTC, which had been interpreted as pathogenic or likely pathogenic according to the ACMG criteria ( 4 ) and have been submitted to the public database ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar , submission number: SUB6664717). Furthermore, analysis of mitochondrial DNA content in muscle tissue of these patients have confirmed remarkable reduction compared to healthy controls (11.30–13.25%) in our previous report ( 15 ). One patient revealed mutations in SURF1 gene, including one missense mutation of c.769G>A(p.Gly257Arg) which had been reported to cause Leigh syndrome ( 16 ) and one novel frameshift mutation of c.752_755del(p.Gln251Profs * 15).…”
Section: Resultssupporting
confidence: 85%
“…Another patient who ga ined m.3302A>G variant showed clinical characteristic consistent with CPEO. Compared to MELAS patients with m.3243A>G mutation from our previous report (15), the mutation load of m.3243A>G in MM is higher than MELAS, which has significant difference (Figure 3).…”
Section: Correlation Between Phenotype and Genotypementioning
confidence: 69%
“…Case 1 is a 10-month-old boy, the first child of healthy nonconsanguineous Chinese parents of Han nationality, who had been mentioned in our previous report (14). During late pregnancy, a small head circumference was noticed.…”
Section: Case Descriptionmentioning
confidence: 88%
“…The c.606_607delAG variant causes a frameshift change, which interrupts the transcription of subsequent sequences. It has never been reported in the 1,000 Genomes Project or ExAC database, and it is considered pathogenic (PVS1, PS4, PM2, PP1) according to the ACMG 2015 guideline (13), as described in our previous report (14).…”
Section: Case Descriptionmentioning
confidence: 99%
“…Pathogenic variants in cysteinyl-tRNA synthetase2 ( CARS2 ) gene have been recently described to be associated with severe myoclonic epilepsy, neuroregression, progressive tetraparesis, progressive visual and hearing impairment and complex movement disorders including chorea, dystonia, oculogyric episodes, myoclonus and startle myoclonus [1] , [2] , [3] , [4] . Neuroimaging of the brain in these individuals has revealed abnormalities such as white matter abnormalities, a thin corpus callosum, cerebral atrophy and cerebellar hypoplasia [1] , [3] , [4] , [5] . We report a 11-year-old boy with a known homozygous pathogenic variant c.655G > A in CARS2 presenting with neuroregression, dysfluency in speech, aggressive behavior and tremors and ESES pattern on EEG over 2 years expanding the phenotypic spectrum of CARS2 -related disorder.…”
Section: Introductionmentioning
confidence: 99%