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Expanding the pheno...
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
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- Hikmat, O. (author)
- Haukeland University Hospital,University of Bergen
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- Isohanni, P. (author)
- University of Helsinki
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- Keshavan, N. (author)
- Great Ormond Street Hospital,UCL Institute of Child Health
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- Ferla, M. P. (author)
- Wellcome Trust Centre for Human Genetics
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- Fassone, E. (author)
- UCL Institute of Child Health
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- Abbott, M. A. (author)
- University of Massachusetts Chan Medical School,UCL Institute of Child Health
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- Bellusci, M. (author)
- 12 de Octubre University Hospital
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Queen Silvia Children’s Hospital
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- Dimmock, D. (author)
- Rady Children’s Institute for Genomic Medicine
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- Ghezzi, D. (author)
- University of Milan,Carlo Besta Neurological Institute, IRCCS
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- Houlden, H. (author)
- University College London
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- Invernizzi, F. (author)
- Carlo Besta Neurological Institute, IRCCS
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- Jaman, N. B. K. (author)
- Karolinska Institute,Karolinska University Hospital
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Kurian, M. A. (author)
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- Morava, E. (author)
- Mayo Clinic Minnesota,University Hospitals Leuven
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Naess, K. (author)
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- Ortigoza-Escobar, J. D. (author)
- Biomedical Network on Rare Diseases (CIBERER)
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- Parikh, S. (author)
- Cleveland Clinic Foundation
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- Pennisi, A. (author)
- Necker-Enfants Malades Hospital
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- Barcia, G. (author)
- Necker-Enfants Malades Hospital
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- Tylleskar, K. B. (author)
- Haukeland University Hospital
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- Brackman, D. (author)
- Haukeland University Hospital
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- Wortmann, S. B. (author)
- Radboud University Medical Center,Paracelsus Private Medical University of Salzburg
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- Taylor, J. C. (author)
- Wellcome Trust Centre for Human Genetics
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- Bindoff, L. A. (author)
- University of Bergen,Haukeland University Hospital
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- Fellman, Vineta (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Folkhälsan Research Center,University of Helsinki
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- Rahman, S. (author)
- UCL Institute of Child Health,Great Ormond Street Hospital
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(creator_code:org_t)
- 2021-10-18
- 2021
- English.
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In: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 8:11, s. 2155-2165
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http://dx.doi.org/10... (free)
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Abstract
Subject headings
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- Objective: To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype-phenotype correlations and identify reliable prognostic disease markers. Methods: We performed a retrospective multinational cohort study of previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants were considered eligible. Clinical, laboratory, neuroimaging and genetic data were analysed. Patients were stratified into different groups based on the age of disease onset, whether homozygous or compound heterozygous for the c.232A>G (p.Ser78Gly) variant, and those with other pathogenic BCS1L variants. Results: Thirty-three patients were included. We found that growth failure, lactic acidosis, tubulopathy, hepatopathy and early death were more frequent in those with disease onset within the first month of life. In those with onset after 1 month, neurological features including movement disorders and seizures were more frequent. Novel phenotypes, particularly involving movement disorder, were identified in this group. The presence of the c.232A>G (p.Ser78Gly) variant was associated with significantly worse survival and exclusively found in those with disease onset within the first month of life, whilst other pathogenic BCS1L variants were more frequent in those with later symptom onset. Interpretation: The phenotypic spectrum of BCS1L-related disease comprises a continuum of clinical features rather than a set of separate syndromic clinical identities. Age of onset defines BCS1L-related disease clinically and early presentation is associated with poor prognosis. Genotype correlates with phenotype in the presence of the c.232A>G (p.Ser78Gly) variant.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- lethal metabolic-disorder
- complex iii deficiency
- gracile syndrome
- iron-overload
- bcs1l gene
- mutations
- protein
- mechanism
- Neurosciences & Neurology
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Hikmat, O.
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Isohanni, P.
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Keshavan, N.
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Ferla, M. P.
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Fassone, E.
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Abbott, M. A.
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show more...
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Bellusci, M.
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Darin, Niklas, 1 ...
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Dimmock, D.
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Ghezzi, D.
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Houlden, H.
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Invernizzi, F.
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Jaman, N. B. K.
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Kurian, M. A.
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Morava, E.
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Naess, K.
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Ortigoza-Escobar ...
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Parikh, S.
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Pennisi, A.
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Barcia, G.
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Tylleskar, K. B.
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Brackman, D.
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Wortmann, S. B.
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Taylor, J. C.
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Bindoff, L. A.
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Fellman, Vineta
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Rahman, S.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Annals of Clinic ...
- By the university
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University of Gothenburg
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Lund University
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Karolinska Institutet