Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <scp> <i>CTBP1</i> </scp> variant-Reference-Cited by-同舟云学术

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

Published:2022-08-24 Issue:6 Volume:63 Page:546-554
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Wong Wui‐Kwan¹^ORCID,Balasubramaniam Shanti²³^ORCID,Wong Rachel S. H.²,Graf Nicole⁴,Thorburn David R.⁵⁶⁷,McFarland Robert⁸⁹,Troedson Christopher¹

Affiliation:

1. TY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia

2. Genetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney New South Wales Australia

3. Discipline of Genomic Medicine, Sydney Medical School University of Sydney Sydney New South Wales Australia

4. Department of Histopathology The Children's Hospital at Westmead Sydney Australia

5. Murdoch Children's Research Institute Melbourne Victoria Australia

6. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

7. Victorian Clinical Genetics Services Melbourne Victoria Australia

8. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

9. NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12326

Reference16 articles.

1. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

2. Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks

3. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

4. C-terminal binding protein 1 (CtBP1) deficiency, mimicking congenital myopathy during infancy

5. An unusual clinical presentation of CTBP1‐related syndrome associating muscle dystrophy, cerebellar ataxia and paralytic ileus;El Houwayek E;Neuromusc Disorders,2020