A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Metab Brain Dis
; 32(5): 1389-1393, 2017 10.
Article
em 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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Ribossômicas
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Doença de Leigh
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Doenças Mitocondriais
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Proteínas Mitocondriais
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Metab Brain Dis
Assunto da revista:
CEREBRO
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METABOLISMO
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Turquia