par Boros, Emese 
;Elilié Mawa Ongoth, F.;Heinrichs, Claudine ;Mansbach, Anne-Laure ;Seneca, S;Aeby, Alec ;Ismaili, Khalid ;Brachet, Cécile
Référence Mitochondrion, 66, page (51-53)
Publication Publié, 2022-09-01
;Elilié Mawa Ongoth, F.;Heinrichs, Claudine ;Mansbach, Anne-Laure ;Seneca, S;Aeby, Alec ;Ismaili, Khalid ;Brachet, Cécile Référence Mitochondrion, 66, page (51-53)
Publication Publié, 2022-09-01
Article révisé par les pairs
| Résumé : | RMND1 (Required for Meiotic Nuclear Division 1 homolog) is a nuclear encoded mitochondrial protein. Biallelic variants in RMND1 are 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. |
