UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Neuropediatrics
; 50(1): 57-60, 2019 02.
Article
en En
| MEDLINE
| ID: mdl-30517966
ABSTRACT
INTRODUCTION:
Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. METHODS ANDRESULTS:
Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p.Glu210Lys) in the UBTF gene. This variant was recently described as de novo in 11 patients with similar neurodegeneration characterized by developmental decline initially confined to motor development followed by language regression, appearance of an extrapyramidal movement disorder, and leading to severe intellectual disability. In 3 of the 11 patients described so far, seizures were also present.CONCLUSIONS:
Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the UBTF gene and helps to clarify the relation between this one single recurrent pathogenic variant described in this gene to date and its phenotype. The UBTF gene should be considered a novel candidate gene in neurodegeneration with or without epilepsy.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Enfermedades Neurodegenerativas
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Proteínas del Complejo de Iniciación de Transcripción Pol1
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Epilepsia Refractaria
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Mutación
Tipo de estudio:
Etiology_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Neuropediatrics
Año:
2019
Tipo del documento:
Article
País de afiliación:
República Checa