A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Metab Brain Dis
; 32(5): 1389-1393, 2017 10.
Article
en En
| MEDLINE
| ID: mdl-28752220
ABSTRACT
MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22. With this case report, we also present first symmetrical bilateral brainstem and medial thalamic lesions, and cerebellar and cerebral atrophy on a brain MR imaging follow-up of ten months.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Ribosómicas
/
Enfermedad de Leigh
/
Enfermedades Mitocondriales
/
Proteínas Mitocondriales
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Metab Brain Dis
Asunto de la revista:
CEREBRO
/
METABOLISMO
Año:
2017
Tipo del documento:
Article
País de afiliación:
Turquía