Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals from eight unrelated families carrying bi-allelic v...

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Veröffentlicht in:	American journal of human genetics 2021-12, Vol.108 (12), p.2368-2384
Hauptverfasser:	Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Ataxia - genetics bi-allelic Cells, Cultured Child Cohort Studies CRISPR-Cas9 gene editing DEE developmental and epileptic encephalopathy DNA Mutational Analysis Drosophila Drosophila melanogaster - genetics Epilepsy - genetics exome sequencing Family Health Female Fibroblasts Hearing Loss - genetics Humans Ketoglutarate Dehydrogenase Complex - genetics Male mitochondria Mutation neurodevelopmental disease Neurodevelopmental Disorders - genetics OGDHL RNA Splicing Vision Disorders - genetics α-ketoglutarate
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