Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort...

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Bibliographic Details
Main Authors: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Genome Medicine
Subjects:
2-oxo acid dehydrogenase
OGDHL
Genetic compensation
Disease model
Zebrafish
Neurodevelopmental disorders
Online Access:https://doi.org/10.1186/s13073-023-01258-4

Internet

https://doi.org/10.1186/s13073-023-01258-4

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