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Case Reports
. 2022 Sep:66:51-53.
doi: 10.1016/j.mito.2022.07.004. Epub 2022 Jul 25.

Primary ovarian insufficiency in RMND1 mitochondrial disease

E Boros  1 , F Elilié Mawa Ongoth  1 , C Heinrichs  1 , A L Mansbach  2 , S Seneca  3 , A Aeby  4 , K Ismaïli  5 , C Brachet  6
Affiliations
Case Reports

Primary ovarian insufficiency in RMND1 mitochondrial disease

E Boros et al. Mitochondrion. 2022 Sep.

Abstract

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.

Keywords: Mitochondria; Ovarian Failure; Perrault syndrome; Primary Ovarian Insufficiency; RMND1.

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Conflict of interest statement

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.

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