To the top

Page Manager: Webmaster
Last update: 9/11/2012 3:13 PM

Tell a friend about this page
Print version

Phenotype-genotype correl… - University of Gothenburg, Sweden Till startsida
Sitemap
To content Read more about how we use cookies on gu.se

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

Journal article
Authors 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
Published in Journal of medical genetics
Volume 55
Issue 1
Pages 21-27
ISSN 1468-6244
Publication year 2018
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 21-27
Language en
Links dx.doi.org/10.1136/jmedgenet-2017-1...
www.ncbi.nlm.nih.gov/entrez/query.f...
Subject categories Pediatrics

Abstract

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.

Page Manager: Webmaster|Last update: 9/11/2012
Share:

The University of Gothenburg uses cookies to provide you with the best possible user experience. By continuing on this website, you approve of our use of cookies.  What are cookies?