Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.
Neonatology
; 116(3): 290-294, 2019.
Article
en En
| MEDLINE
| ID: mdl-31352446
ABSTRACT
The cytochrome C oxidase assembly protein SCO1 gene encodes a mitochondrial protein essential for the mammalian energy metabolism. Only three pedigrees of SCO1mutations have thus far been reported. They all presented with lactate acidosis and encephalopathy. Two had hepatopathy and hypotonia, and the other presented with intrauterine growth retardation and hypertrophic cardiomyopathy leading to cardiac failure. Mitochondrial disease may manifest in neonates, but early diagnosis has so far been difficult. Here, we present a novel mutation in the SCO1 gene in-frame deletion (Gly106del)with a different phenotype without encephalopathy, hepatopathy, hypotonia, or cardiac involvement. Within the first 2 h the girl developed hypoglycemia and severe chronic lactate acidosis. Because of the improved technique in whole exome sequencing, an early diagnosis was made when the girl was only 9 days old, which enabled the prediction of prognosis as well as level of treatment. She died at 1 month of age.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Chaperonas Moleculares
/
Enfermedades Mitocondriales
/
Homocigoto
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Female
/
Humans
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Newborn
Idioma:
En
Revista:
Neonatology
Asunto de la revista:
PERINATOLOGIA
Año:
2019
Tipo del documento:
Article