Primary ovarian insufficiency in RMND1 mitochondrial disease.
Mitochondria
Ovarian Failure
Perrault syndrome
Primary Ovarian Insufficiency
RMND1
Journal
Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
received:
17
02
2022
revised:
28
06
2022
accepted:
14
07
2022
pubmed:
29
7
2022
medline:
28
9
2022
entrez:
28
7
2022
Statut:
ppublish
Résumé
RMND1 (Required for Meiotic Nuclear Division 1 homolog) is a nuclear encoded mitochondrial protein. Biallelic variants inRMND1are described in patients with white matter encephalopathy, hearing loss and renal dysfunction. In addition to this phenotype, two independent families (3 patients) have been reported with ovarian failure. We report on a 17-year-old girl with RMND1 related mitochondrial disorder including white matter encephalopathy, hearing loss and renal insufficiency who presented primary ovarian insufficiency in whom a homozygous variant c.713 A > G (p.Asn238Ser) in the RMND1 gene was found. We report the fourth patient with RMND1 biallelic pathogenic variants and primary ovarian insufficiency.
Identifiants
pubmed: 35901949
pii: S1567-7249(22)00060-5
doi: 10.1016/j.mito.2022.07.004
pii:
doi:
Substances chimiques
Cell Cycle Proteins
0
Mitochondrial Proteins
0
RMND1 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
51-53Informations de copyright
Copyright © 2022 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.