Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome medicine - 29 Nov 2023
Lin Sheng-Jia, Vona Barbara, Lau Tracy, Huang Kevin, Zaki Maha S, Aldeen Huda Shujaa, Karimiani Ehsan Ghayoor, Rocca Clarissa, Noureldeen Mahmoud M, Saad Ahmed K, Petree Cassidy, Bartolomaeus Tobias, Abou Jamra Rami, Zifarelli Giovanni, Gotkhindikar Aditi, Wentzensen Ingrid M, Liao Mingjuan, Cork Emalyn Elise, Varshney Pratishtha, Hashemi Narges, Mohammadi Mohammad Hasan, Rad Aboulfazl, Neira Juanita, Toosi Mehran Beiraghi, Knopp Cordula, Kurth Ingo, Challman Thomas D, Smith Rebecca, Abdalla Asmahan, Haaf Thomas, Suri Mohnish, Joshi Manali, Chung Wendy K, Moreno-De-Luca Andres, Houlden Henry, Maroofian Reza, Varshney Gaurav K
Abstract excerpt
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 was recruited to carefully assess the gene-disease relationship. METHODS: Using an unbiased genotype-first approach, we...
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