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Lookup NU author(s): Professor Bobby McFarlandORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.The C-terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the CTBP1 gene has been shown to cause hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS). There have only been 16 cases reported to date with heterozygous, pathogenic variants in CTBP1 manifesting with a neurodevelopmental phenotype. We report a further case of a pathogenic, heterozygous, de novo variant in CTBP1 identified by whole exome sequencing in a female with the typical phenotype of global developmental delay, hypotonia, cerebellar dysfunction and failure to thrive. Additionally, muscle biopsy demonstrates evidence of a respiratory chain defect, only previously reported once in the literature. This supports the role of CTBP1 in maintenance of normal mitochondrial activity and highlights the importance of considering secondary mitochondrial dysfunction in genes not directly involved in the mitochondrial respiratory chain.
Author(s): Wong W-K, Balasubramaniam S, Wong RSH, Graf N, Thorburn DR, McFarland R, Troedson C
Publication type: Article
Publication status: Published
Journal: JIMD Reports
Year: 2022
Volume: 63
Issue: 6
Pages: 546-554
Print publication date: 01/11/2022
Online publication date: 24/08/2022
Acceptance date: 16/08/2022
Date deposited: 28/11/2022
ISSN (print): 2192-8304
ISSN (electronic): 2192-8312
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1002/jmd2.12326
DOI: 10.1002/jmd2.12326
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