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Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1

Poster
Authors Kristoffer Björkman
Kalliopi Sofou
Niklas Darin
Elisabeth Holme
Gittan Kollberg
Jorge Asin-Cayuela
Karin M Holmberg Dahle
Anders Oldfors
Mar Tulinius
Ali-Reza Moslemi
Published in Euromit 2014, 15-19 juni, Tampere, Finland
Publication year 2014
Published at Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Pediatrics
Language en
Links dx.doi.org/10.13140/RG.2.1.2827.216...
Subject categories Neurology, Diagnostic radiology, Pediatrics, Clinical Laboratory Medicine, Clinical chemistry

Abstract

Objectives: To study genotype-phenotype correlations in genes encoding complex I electron input module subunits. Materials and methods: We studied five patients with isolated complex I deficiency, three with NDUFS1 mutations and two with NDUFV1 mutations. A literature review of all reported cases of mutations in the affected genes was performed. Results: The literature review revealed pathological mutations in NDUFS1 for 18 patients in 17 families and correspondingly in NDUFV1 for 26 patients in 19 families. Unpublished clinical data for our five patients were added. Our study showed quite variable clinical courses; death before two years of age was seen in 41% of patients while 18% were alive at seven years. There was a significant difference between the NDUFS1 and NDUFV1 groups for clinical onset and life-span. Mutations in NDUFS1 were linked to a worse clinical course with earlier onset and earlier death. Conclusions: Genotype-phenotype correlations in patients with mutations affecting the genes that encode the electron input module of complex I vary, but patients with NDUFS1 mutation tend to have a worse clinical course than patients with NDUFV1 mutation. Identifying the mutations is of importance for accurate prognostic information and genetic counseling.

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