Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
CLPP
Perrault syndrome
deafness
developmental delay
ovarian dysgenesis
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
07 Mar 2024
07 Mar 2024
Historique:
revised:
12
02
2024
received:
29
12
2023
accepted:
19
02
2024
medline:
8
3
2024
pubmed:
8
3
2024
entrez:
8
3
2024
Statut:
aheadofprint
Résumé
A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MR/W019027/1
Pays : United Kingdom
Informations de copyright
© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
Références
Hochberg I, Demain LAM, Richer J, et al. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021;108(11):2195-2204.
Faridi R, Rehman AU, Morell RJ, et al. Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. Clin Genet. 2017;91(2):328-332.
Faridi R, Rea A, Fenollar-Ferrer C, et al. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet. 2022;141(3-4):805-819.
Theunissen TE, Szklarczyk R, Gerards M, et al. Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects. Front Neurol. 2016;7:203.
Jenkinson EM, Rehman AU, Walsh T, et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013;92(4):605-613.