In this paper, there were five patients from Ashkenazi Jewish families who suffered from Leigh’s syndrome, along with combined OXPHOS complex I and IV defect due to mutation in the C20ORF7 complex I assembly factor. Defects of the mitochondrial OXPHOS (oxidative phosphorylation system) are neurological disorders in children. Leigh’s syndrome has been lethal in one of the five patients at approximately 6 years of age. Leigh’s syndrome is associated with serious neurological manifestations and a grave prognosis.
The results showed that the patient 1 and 3 had enzymatic activities in muscle mitochondria, patient 1 was diagnosed with isolated complex I deficiency, complex IV which was also seen in patient 3, and in patient 1 combined OXPHOS was seen in the fibroblasts. The two families of patients were processed separately. For family I, complex I assembly factor was reported, C20ORF7 “consists of 11 exons encoding 345 amino acids. Sequencing of the exons and the flanking intronic regions revealed a single homozygous mutation c.749 G>T located in exon 7 in both affected children of family I” (J Inherit Metlab Dis (2012), 128). The family II, the two patients were…show more content… Based on the family I, the parents and an unaffected siblings of the patient 1 and 2 were heterozygous for the same mutation, they were the carrier of the mutation but didn’t show the sign of the mutation. In the family II, the two patients were homozygous for
