Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
Division of Pediatric Nephrology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India.
Indian J Pediatr. 2018 Feb;85(2):87-92. doi: 10.1007/s12098-017-2515-x. Epub 2017 Oct 26.
Mitochondrial disorders have a wide variability in the phenotype. A 10-mo-old girl presented with a severe phenotype of multisystem involvement due to an uncommon mitochondrial disease. Mutations in the RMND1 gene of nuclear DNA were identified on next generation sequencing. This mutation results in combined oxidative phosphorylation deficiency -11 (OMIM #614922) of the respiratory chain complex. So far in South Asia, patients of this disorder have been reported only from Pakistan and Bangladesh.
In addition to the features reported in other patients of South Asia with the same mutation at c.1349G>C, index patient from India had hyperaldosteronism, long QT interval but no deafness.
Thus, to conclude, this report emphasizes the diagnostic value of FGF21 assay in this disorder. It extends the phenotype associated with the founder mutation in RMND1 gene in patients from South Asia.
线粒体疾病的表型具有广泛的变异性。一位 10 个月大的女孩因一种罕见的线粒体疾病出现多系统受累的严重表型。下一代测序确定了核 DNA 中的 RMND1 基因突变。这种突变导致呼吸链复合物的联合氧化磷酸化缺陷-11（OMIM #614922）。到目前为止，在南亚，只有来自巴基斯坦和孟加拉国的患者报告了这种疾病。
除了在其他南亚患者中报告的相同突变 c.1349G>C 的特征外，来自印度的指数患者还患有高醛固酮血症、长 QT 间期但无耳聋。
因此，总之，本报告强调了 FGF21 测定在该疾病中的诊断价值。它扩展了与南亚患者 RMND1 基因突变相关的表型。
