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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Artikel i vetenskaplig tidskrift
Författare Kalliopi Sofou
Irenaeus F M de Coo
Elsebet Ostergaard
Pirjo Isohanni
Karin Naess
Linda De Meirleir
Charalampos Tzoulis
Johanna Uusimaa
Tuula Lönnqvist
Laurence Albert Bindoff
Mar Tulinius
Niklas Darin
Publicerad i Journal of medical genetics
Volym 55
Nummer/häfte 1
Sidor 21-27
ISSN 1468-6244
Publiceringsår 2018
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 21-27
Språk en
Länkar dx.doi.org/10.1136/jmedgenet-2017-1...
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Pediatrik

Sammanfattning

Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored.We aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients.We studied 96 patients with genetically confirmed Leigh syndrome diagnosed and followed in eight European centres specialising in mitochondrial diseases.We found that ataxia, ophthalmoplegia and cardiomyopathy were more prevalent among patients with mitochondrial DNA defects. Patients with mutations in MT-ND and NDUF genes with complex I deficiency shared common phenotypic features, such as early development of central nervous system disease, followed by high occurrence of cardiac and ocular manifestations. The cerebral cortex was affected in patients with NDUF mutations significantly more often than the rest of the cohort. Patients with the m.8993T>G mutation in MT-ATP6 gene had more severe clinical and radiological manifestations and poorer disease outcome compared with patients with the m.8993T>C mutation.Our study provides new insights into phenotype-genotype correlations in Leigh syndrome and particularly in patients with complex I deficiency and with defects in the mitochondrial ATP synthase.

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