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

doi:10.1016/j.ajhg.2021.11.003

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Article

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

American journal of human genetics - 2 Dec 2021

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

Abstract excerpt

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 variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing loss,...

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Identifiers

PMID: 34800363
DOI: 10.1016/j.ajhg.2021.11.003
PMCID: PMC8715183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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