Résumé :
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Case report - girl 4y of age had genetic consultation due to slight mental retardation, speech delay, autistic behavior, stereotypic movements and not developed fine motor skills. In blood biochemical investigation there were discovered slightly elevated lactate and alanine, in urine - organic acid spectrum without changes. After clinical examination patient's DNA was sent for mtDNA gene molecular investigation to confirm suspicion about Leigh syndrome.Method: DNA was extracted from venous blood by standard chloroform/ phenol method. For ATP6 gene analysis there was used PCR and direct sequencing. For modeling of nucleotide changes impact on clinical phenotype were used PolyPhen2 program. Results: in ATP6 gene there were found two homoplasmic mtDNA changes comparing to CRS - A8860G and C8933T.Conclusions: A8860G is found in 60% of Caucasians and there are no association with pathology. C8933T causes amino acid changes from proline to leucine at 136th position. There are no reports about C8933T clinical effect, after modeling in silico it has benign effect. Possibly combination of two benign nucleotide changes in ATP6 gene could cause dysfunction of mitochondria and clinical phenotype of patient.
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