Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

Thomas, H. B., Demain, L. A. M., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J. M., … Newman, W. G. (2025). Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.005
Authors:
Huw B Thomas
Leigh A M Demain
Alfredo Cabrera-Orefice
Isabelle Schrauwen
Hanan E Shamseldin
Alessandro Rea
Thashi Bharadwaj
Thomas B Smith
Monika Oláhová
Kyle Thompson
Langping He
Namanpreet Kaur
Anju Shukla
Musaad Abukhalid
Muhammad Ansar
Sakina Rehman
Saima Riazuddin
Firdous Abdulwahab
Janine M Smith
Zornitza Stark
Hanifenur Mancilar
Sait Tumer
Fatma N Esen
Eyyup Uctepe
Vehap Topcu
Ahmet Yesilyurt
Erum Afzal
Mehri Salari
Christopher Carroll
Giovanni Zifarelli
Peter Bauer
Deniz Kor
Fatma D Bulut
Henry Houlden
Reza Maroofian
Samantha Carrera
Wyatt W Yue
Kevin J Munro
Fowzan S Alkuraya
Peter Jamieson
Zubair M Ahmed
Suzanne M Leal
Robert W Taylor
Ilka Wittig
Raymond T O'Keefe
William G Newman
Affiliated Authors:
Thashi Bharadwaj
Suzanne M Leal
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Author Keywords:
mrpl49
perrault syndrome
combined oxidative phosphorylation deficiency
learning disability
leukodystrophy
mitochondria
mitoribosome
primary ovarian insufficiency
rare disease
sensorineural hearing loss
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2025.02.005
PMID:
40043708
DOI:
10.1016/j.ajhg.2025.02.005
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record

Record Created: