Universität zu Köln

Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernandez-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Armstrong, Judith, Montero, Raquel, Montero, Raquel, Tischner, Christin, Wenz, Tina, McFarland, Robert ORCID: 0000-0002-8833-2688 and Taylor, Robert W. (2015). Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front. Genet., 6. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

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Abstract

Background: Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes. Case report: The authors describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalopathy, spastic-dystonic tetraparesis, failure to thrive, seizures and persistent lactic acidemia. Brain imaging revealed thinning of the corpus callosum and diffuse alteration of white matter signal. Genetic investigation confirmed two novel mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1 (mtEFG1), resulting in combined deficiencies of OXPHOS. Discussion: The patient shares multiple clinical, laboratory and radiological similarities with the 11 reported patients with mutations involving this gene, but presents with a stable clinical course without metabolic decompensations, rather than a rapidly progressive fatal course. Defects in GFM1 gene confer high susceptibility to neurologic or hepatic dysfunction and this is, to the best of our knowledge, the first described patient who has survived beyond early childhood. Reporting of such cases is essential so as to delineate the key clinical and neuroradiological features of this disease and provide a more comprehensive view of its prognosis.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Brito, Sara UNSPECIFIED UNSPECIFIED UNSPECIFIED Thompson, Kyle UNSPECIFIED UNSPECIFIED UNSPECIFIED Campistol, Jaume UNSPECIFIED UNSPECIFIED UNSPECIFIED Colomer, Jaime UNSPECIFIED UNSPECIFIED UNSPECIFIED Hardy, Steven A. UNSPECIFIED UNSPECIFIED UNSPECIFIED He, Langping UNSPECIFIED UNSPECIFIED UNSPECIFIED Fernandez-Marmiesse, Ana UNSPECIFIED UNSPECIFIED UNSPECIFIED Palacios, Lourdes UNSPECIFIED UNSPECIFIED UNSPECIFIED Jou, Cristina UNSPECIFIED UNSPECIFIED UNSPECIFIED Jimenez-Mallebrera, Cecilia UNSPECIFIED orcid.org/0000-0001-8203-7103 UNSPECIFIED Armstrong, Judith UNSPECIFIED UNSPECIFIED UNSPECIFIED Montero, Raquel UNSPECIFIED UNSPECIFIED UNSPECIFIED Montero, Raquel UNSPECIFIED UNSPECIFIED UNSPECIFIED Tischner, Christin UNSPECIFIED UNSPECIFIED UNSPECIFIED Wenz, Tina UNSPECIFIED UNSPECIFIED UNSPECIFIED McFarland, Robert UNSPECIFIED orcid.org/0000-0002-8833-2688 UNSPECIFIED Taylor, Robert W. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-409609
DOI:	10.3389/fgene.2015.00102
Journal or Publication Title:	Front. Genet.
Volume:	6
Date:	2015
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	1664-8021
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MITOCHONDRIAL TRANSLATION; DISEASES; SEQUENCE; EFG1 Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/40960