RMND1 Mutation Case Report and Literature Review
Molecular Syndromology, cilt.15, sa.6, ss.487-494, 2024 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 15 Sayı: 6
- Basım Tarihi: 2024
- Doi Numarası: 10.1159/000538930
- Dergi Adı: Molecular Syndromology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.487-494
- Anahtar Kelimeler: Mitochondrial disease, Combined oxidative phosphorylation deficiency, Developmental delay, Sensorineural hearing loss, RMND1 gene
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Introduction: Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a highly variable phenotypic presentation. The protein required for meiotic nuclear division 1 homolog (RMND1) is localized to the inner mitochondrial membrane and is encoded by the nuclear genome. Case Presentation: We report a new patient from a consanguineous family who was severely affected by a previously described combined oxidative phosphorylation deficiency 11 and was treated rapidly due to early diagnosis. Methods: We also included patients with RMND1 mutation in the literature. We analyzed the epidemiological, clinical, laboratory, and genetic data of a total of 49 patients (98 alleles) in the literature, including our patient. We summarized all previously published patients and focused on the importance of early diagnosis. Results: The most common variant in patients with RMND1 mutation was c.713A>G (p.Asn238Ser). Mortality was significantly lower in patients with homozygous and compound heterozygous c.713A>G (p.Asn238Ser) mutations (p < 0.001). The second most common mutation was c1349G>C (p.∗450Serext∗31), which was reported in 11 patients (22.4%). Cardiac involvement and mortality were more common in patients with homozygous c.1349G>C (p.∗450Serext∗32) mutation (p = 0.008 and 0.008, respectively). Conclusion: In this study, the effect of cardiac involvement on mortality in RMND1 mutation was shown for the first time. We reported that mortality was lower in the c.713A>G (p.Asn238Ser) mutation. Furthermore, mortality was more common in the c.1349G>C (p.∗450Serext∗32) mutation. These findings have not been previously reported in the literature. They are reported for the first time in this study.