A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
Clin Dysmorphol
; 28(1): 22-25, 2019 Jan.
Article
en En
| MEDLINE
| ID: mdl-30407211
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Seudoobstrucción Intestinal
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Encefalomiopatías Mitocondriales
/
Sitios de Empalme de ARN
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Mutación
Límite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
2019
Tipo del documento:
Article
Pais de publicación:
Reino Unido