Article
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
American journal of human genetics - 3 Apr 2025
Thomas Huw B, Demain Leigh A M, Cabrera-Orefice Alfredo, Schrauwen Isabelle, Shamseldin Hanan E, Rea Alessandro, Bharadwaj Thashi, Smith Thomas B, Oláhová Monika, Thompson Kyle, He Langping, Kaur Namanpreet, Shukla Anju, Abukhalid Musaad, Ansar Muhammad, Rehman Sakina, Riazuddin Saima, Abdulwahab Firdous, Smith Janine M, Stark Zornitza, Mancilar Hanifenur, Tumer Sait, Esen Fatma N, Uctepe Eyyup, Topcu Vehap, Yesilyurt Ahmet, Afzal Erum, Salari Mehri, Carroll Christopher, Zifarelli Giovanni, Bauer Peter, Kor Deniz, Bulut Fatma D, Houlden Henry, Maroofian Reza, Carrera Samantha, Yue Wyatt W, Munro Kevin J, Alkuraya Fowzan S, Jamieson Peter, Ahmed Zubair M, Leal Suzanne M, Taylor Robert W, Wittig Ilka, O'Keefe Raymond T, Newman William G
Abstract excerpt
Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder that is clinically and genetically heterogeneous. Genome sequencing identified bi-allelic MRPL49 variants in individuals from nine unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability,...
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