Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.
Clin Genet
; 97(6): 933-937, 2020 06.
Article
en En
| MEDLINE
| ID: mdl-32181496
ABSTRACT
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by mitochondrial fission factor (MFF) gene mutation is a rare neurogenetic disorder. Pathogenic MFF mutations have been described in three reports in literature so far. We report a young child of Indian descent who presented to us with global developmental followed by regression of acquired milestones, spasticity, visual and auditory impairment, and was found to harbor a novel pathogenic homozygous MFF truncating variant c.433C>T; p.Arg145Ter. Cellular imaging of patient lymphoblastoid cell line had shown abnormal shapes of mitochondria due to fission defects. The patient has been started on mitochondrial cocktail with some improvement.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Encefalopatías
/
Predisposición Genética a la Enfermedad
/
Proteínas Mitocondriales
/
Dinámicas Mitocondriales
/
Proteínas de la Membrana
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Año:
2020
Tipo del documento:
Article
País de afiliación:
India