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Mitochondrion. 2016 Nov;31:84-88. doi: 10.1016/j.mito.2016.10.004. Epub 2016 Oct 15.

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

Author information

1
CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
2
CHUC - Coimbra University Hospitals, Portugal.
3
CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
4
Metabolic Unit, Centre for Child Development, Pediatric Hospital of Coimbra - CHUC, Portugal.
5
Faculty of Medicine, University of Coimbra, Portugal; Metabolic Unit, Centre for Child Development, Pediatric Hospital of Coimbra - CHUC, Portugal.
6
CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal. Electronic address: mgrazina.fmuc@gmail.com.

Abstract

Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.

KEYWORDS:

COX deficiency; Deletion; Leigh syndrome; Nonsense mutation; SURF1

PMID:
27756633
DOI:
10.1016/j.mito.2016.10.004
[Indexed for MEDLINE]

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