Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
Pediatr Dev Pathol
; 20(5): 416-420, 2017.
Article
en En
| MEDLINE
| ID: mdl-28812460
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M). TK2 mutations have been identified mainly in patients with the myopathic form of mtDNA depletion syndromes. This patient presents an atypical TK2-related myopathic form of mtDNA depletion syndromes, because despite having a very low content of mtDNA (<20%), she presents a slower and less severe evolution of the disease. In conclusion, our data confirm the role of TK2 gene in mtDNA depletion syndromes and expanded the phenotypic spectrum.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Timidina Quinasa
/
Enfermedades Mitocondriales
/
Enfermedades Musculares
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Dev Pathol
Asunto de la revista:
PATOLOGIA
/
PEDIATRIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
España
Pais de publicación:
Estados Unidos