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Table 1 The design of the study

From: Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

Cohorts

M.3243 A > G, m.8993 T > C/G, m.8344 A > G

mtDNA deletion

IG NGS (51 genes)

ASD NGS (101 genes)

ASD cases (n = 60)

✔

✔

✔a

✔a

Healthy controls (n = 60)

✔

✔

✔b

✔b

mtdel-MD (n = 7)

✔

✔

✔

–

  1. The investigated cohorts and the performed genetic analysis are shown in the Table 1. NGS testing for intergenomic panel and ASD panel has been performed in the cohort of the 10 mtdel ASD cases and in subgroup of 7 non-mtdel ASD cases and a subgroup of healthy controls (N = 6). Patients with primary mitochondrial disease (N = 7) served as further control group. All investigated person were Caucasian except 2 non-mtdel ASD cases
  2. ASD autism spectrum disorder, MD mitochondrial disease, mtDNA mitochondrial DNA, IG NGS next generation sequencing for genes responsible for intergenomic communication, ASD NGS next generation sequencing for autism associated genes
  3. aThe 10 mtdel-ASD cases and 7 non-mtdel ASD were investigated
  4. b6 cases were investigated
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Behavioral and Brain Functions

ISSN: 1744-9081

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