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Table 2 Mitochondrial DNA deletion status and clinical data of children with ASD and mtDNA deletion

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

Family history Associated diseases Minor anomalies Symptoms beside ASD Laboratory results mtDNA (HP)
MS + FS: intellectual disability, epilepsy Chronic otitis + Hypoacusis, orofacial dyspraxia, intellectual disability, limb ataxia, tremor Lactate level: 3.6 mmol/l (norm: ≤ 1.6 mmol/l), low testosterone levels, high LDH level, normal CK Multiple (> 20%)
MS: autoimmune hypothyreosis Gluten sensitivity + Attention deficit, intellectual disability, Slight macrocephaly, constipation Lactate level: 0.6 mmol/l (norm: ≤ 1.6 mmol/l), elevated lactate/pyruvate ratio, normal CK and LDH levels Major deletion (80%)
MS: epilepsy FS: anxiety Tooth problems + Multiple congenital anomalies, coloboma, visual problems, hypotonic muscles, truncal ataxia, breathing difficulties Lactate level: 1.9 mmol/l (norm: ≤ 1.6 mmol/l). elevated progesterone level, high LDH levels, low insulin levels Major deletion (20%)
Mother: panic syndrome Gastro-oesophageal reflux + Postnatal growth deficiency, failure to thrive, intellectual disability Lactate level: 1.3 mmol/l (norm: ≤ 1.6 mmol/l) Major deletion (65%)
Negative Atopic dermatitis No Lactate levelel: 0.9 mmol/l (norm: ≤ 1.6 mmol/l) Major deletion (35%)
Previous foetus: aborted, FS: hydrocephalus, anal atresia, MS: depression, anxiety, ptosis, OCD, carcinoma Neonatal jaundice, strabismus + Microcephaly, visual problems, hypotonic muscles Lactate level: 2.3 mmol/l (norm: ≤ 1.6 mmol/l), elevated LDH levels, normal CK level Major deletion (20%)
Negative No + Mild truncal ataxia Lactate level: 1.2 mmol/l (norm: ≤ 1.6 mmol/l) Major deletion (85%)
MS: bipolar disorder (3 relatives), suspected thyroid problems Atopic dermatitis, CMV, hepatitis + Sensorineural hearing loss, mild myopathy, ptosis Lactate level: 1.5 mmol/l (norm: ≤ 1.6 mmol/l), elevated LDH, norm CK level. High anti-CMV antibody titer after birth, elevated liver enzymes Major deletion (85%)
MS + FS: PD, AD, intellectual disability; FS: suspicion of ASD No + Mild truncal ataxia, calf hypertrophy Lactate level: 1.5 mmol/l (norm: ≤ 1.6 mmol/l). Elevated lactate/pyruvate ratio, normal CK and LDH level Major deletion (90%)
Negative No + No Lactate level: 1.2 mmol/l (norm: ≤ 1.6 mmol/l) Multiple (> 20%)
  1. The detected mtDNA deletion, family history, clinical data as well as associated phenotype of the ASD patients harbouring mtDNA deletions are shown in Table 2
  2. MS maternal side of the family, FS paternal side of the family, OCD obsessive–compulsive disorder, PD Parkinson’s diseases, AD Alzheimer’s disease, LDH lactate dehydrogenase, CK creatine kinase, CMV cytomegalovirus, mtDNA mitochondrial DNA, HP ratio of heteroplasmy