A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY
Details
Serval ID
serval:BIB_569513F9BB92
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Poster: Summary – with images – on one page of the results of a researche project. The summaries of the poster must be entered in "Abstract" and not "Poster".
Collection
Publications
Institution
Title
A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY
Title of the conference
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Address
Geneva, Switzerland, August 30-September 2, 2011
ISBN
0141-8955
Publication state
Published
Issued date
2011
Volume
34
Series
Journal of Inherited Metabolic Diseases
Pages
S163
Language
english
Notes
Document Type:Meeting Abstract
Abstract
Background: Isolated complex III deficiencies are caused by mutations in
the mitochondrial CytB gene, in the BCS1L gene coding for a CIII
assembly factor and in the UQCRQ gene that codes for the ubiquinone
binding protein of complex III.
Objective: Description of clinical features, mitochondrial function and
molecular genetic analysis in a patient with an isolated complex III deficiency.
Patient: A 17 year old boy, born to consanguineous parents who presented
with hypoglycemia, glycosuria, deafness, growth retardation, Fanconi
Syndrome and severe lactic acidosis in the neonatal period.
Methods: Activities and assembly of OXPHOS complexes were investigated
spectrophotometrically and by BN-PAGE. mt-DNAwas screened for
deletions. Cytochrome b (CytB) and the BCS1L gene were sequenced.
Results: Isolated complex III deficiency was detected in the patient's
skeletal muscle. Using BN-PAGE blotting a complex III of lower
molecular weight was detected. Staining the 2D reveals a missing subunit.
No mutation was detected in the mitochondrial CytB gene. Sequence
analysis of BCS1L revealed a novel homozygous point mutation p.M48V.
Conclusion: The patients decreased complex III activity is most likely
caused by incomplete assembly of complex III due to the homozygous p.
M48V mutation in the BCS1L gene.
the mitochondrial CytB gene, in the BCS1L gene coding for a CIII
assembly factor and in the UQCRQ gene that codes for the ubiquinone
binding protein of complex III.
Objective: Description of clinical features, mitochondrial function and
molecular genetic analysis in a patient with an isolated complex III deficiency.
Patient: A 17 year old boy, born to consanguineous parents who presented
with hypoglycemia, glycosuria, deafness, growth retardation, Fanconi
Syndrome and severe lactic acidosis in the neonatal period.
Methods: Activities and assembly of OXPHOS complexes were investigated
spectrophotometrically and by BN-PAGE. mt-DNAwas screened for
deletions. Cytochrome b (CytB) and the BCS1L gene were sequenced.
Results: Isolated complex III deficiency was detected in the patient's
skeletal muscle. Using BN-PAGE blotting a complex III of lower
molecular weight was detected. Staining the 2D reveals a missing subunit.
No mutation was detected in the mitochondrial CytB gene. Sequence
analysis of BCS1L revealed a novel homozygous point mutation p.M48V.
Conclusion: The patients decreased complex III activity is most likely
caused by incomplete assembly of complex III due to the homozygous p.
M48V mutation in the BCS1L gene.
Create date
14/02/2014 17:27
Last modification date
20/08/2019 14:10
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