Boros E, Elilié Mawa Ongoth F, Heinrichs C, Mansbach A L, Seneca S, Aeby A, Ismaïli K, Brachet C
Paediatric Endocrinology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Belgium.
Paediatric Ear Nose and Throat Department, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Belgium.
Mitochondrion. 2022 Sep;66:51-53. doi: 10.1016/j.mito.2022.07.004. Epub 2022 Jul 25.
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.
RMND1（减数分裂核分裂1同源物必需蛋白）是一种核编码的线粒体蛋白。RMND1的双等位基因变异在患有白质脑病、听力丧失和肾功能障碍的患者中已有描述。除了这种表型外，还报道了两个独立的家系（3名患者）患有卵巢功能衰竭。我们报告了一名17岁女孩，患有与RMND1相关的线粒体疾病，包括白质脑病、听力丧失和肾功能不全，她出现了原发性卵巢功能不全，在其RMND1基因中发现了纯合变异c.713 A>G（p.Asn238Ser）。我们报告了第四例患有RMND1双等位基因致病变异和原发性卵巢功能不全的患者。
