Sökning: WFRF:(Hikmat O.) >
Expanding the pheno...
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
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- Hikmat, O. (författare)
- Haukeland University Hospital,University of Bergen
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- Isohanni, P. (författare)
- University of Helsinki
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- Keshavan, N. (författare)
- Great Ormond Street Hospital,UCL Institute of Child Health
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- Ferla, M. P. (författare)
- Wellcome Trust Centre for Human Genetics
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- Fassone, E. (författare)
- UCL Institute of Child Health
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- Abbott, M. A. (författare)
- University of Massachusetts Chan Medical School,UCL Institute of Child Health
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- Bellusci, M. (författare)
- 12 de Octubre University Hospital
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- Darin, Niklas, 1964 (författare)
- 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. (författare)
- Rady Children’s Institute for Genomic Medicine
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- Ghezzi, D. (författare)
- Carlo Besta Neurological Institute, IRCCS,University of Milan
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- Houlden, H. (författare)
- University College London
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- Invernizzi, F. (författare)
- Carlo Besta Neurological Institute, IRCCS
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- Jaman, N. B. K. (författare)
- Karolinska Institute,Karolinska University Hospital
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Kurian, M. A. (författare)
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- Morava, E. (författare)
- University Hospitals Leuven,Mayo Clinic Minnesota
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Naess, K. (författare)
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- Ortigoza-Escobar, J. D. (författare)
- Biomedical Network on Rare Diseases (CIBERER)
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- Parikh, S. (författare)
- Cleveland Clinic Foundation
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- Pennisi, A. (författare)
- Necker-Enfants Malades Hospital
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- Barcia, G. (författare)
- Necker-Enfants Malades Hospital
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- Tylleskar, K. B. (författare)
- Haukeland University Hospital
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- Brackman, D. (författare)
- Haukeland University Hospital
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- Wortmann, S. B. (författare)
- Paracelsus Private Medical University of Salzburg,Radboud University Medical Center
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- Taylor, J. C. (författare)
- Wellcome Trust Centre for Human Genetics
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- Bindoff, L. A. (författare)
- Haukeland University Hospital,University of Bergen
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- Fellman, Vineta (författare)
- 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,University of Helsinki,Folkhälsan Research Center
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- Rahman, S. (författare)
- Great Ormond Street Hospital,UCL Institute of Child Health
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(creator_code:org_t)
- 2021-10-18
- 2021
- Engelska.
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Ingår i: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 8:11, s. 2155-2165
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- 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)
Nyckelord
- lethal metabolic-disorder
- complex iii deficiency
- gracile syndrome
- iron-overload
- bcs1l gene
- mutations
- protein
- mechanism
- Neurosciences & Neurology
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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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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visa fler...
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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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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- Av lärosätet
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Göteborgs universitet
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Lunds universitet
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Karolinska Institutet