Novel Missense Variation in NDUFA9 Gene in an Iranian Patient with Fatal Leigh Syndrome
| Author | Pourandokht Gholamipour Shirazi | en |
| Author | Abolfazl Heidari | en |
| Author | Hossein Farshadmoghadam | en |
| Orcid | Hossein Farshadmoghadam [0000-0002-9812-1083] | en |
| Issued Date | 2022-06-07 | en |
| Abstract | Mitochondrial diseases are caused by disturbances in the oxidative phosphorylation (OXPHOS) system. Leigh syndrome encompasses a spectrum of mitochondrial diseases characterized by necrotizing encephalopathy. Thus far, two cases carrying a variant in NDUFA9 with a diagnosis of Leigh syndrome have been reported. NDUFA9 is a subunit involved in the assembly and stability of the mitochondrial respiratory complex I. We present a lethal phenotype of Leigh syndrome in a four-month-old boy born to a consanguineous (first cousins) Iranian couple. The patient’s clinical course was notable for episodes of cyanosis, seizures, lactic acidosis, nystagmus, spastic paraplegia, apnea, and respiratory arrest. Due to high branched-chain amino acids, an initial diagnosis of maple syrup urine disease was considered; however, the patient did not respond to treatment. Via exome sequencing, we identified a novel homozygous missense variation in NDUFA9 (c.1069C>G, p.Arg357Gly), and a posthumous diagnosis of Leigh syndrome was made. This report highlights the potential differential diagnosis of Leigh syndrome and further describes the phenotypic spectrum of NDUFA9 defects. | en |
| DOI | https://doi.org/10.5812/ijp-115845 | en |
| Keyword | Neonatal | en |
| Keyword | Mitochondrial Diseases | en |
| Keyword | Leigh Syndrome | en |
| Publisher | Brieflands | en |
| Title | Novel Missense Variation in NDUFA9 Gene in an Iranian Patient with Fatal Leigh Syndrome | en |
| Type | Case Report | en |