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UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Sedlácková, Lucie; Lassuthová, Petra; Sterbová, Katalin; Haberlová, Jana; Vyhnálková, Emílie; Neupauerová, Jana; Stanek, David; Sedivá, Marie; Krsek, Pavel; Seeman, Pavel.
Affiliation
  • Sedlácková L; DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Lassuthová P; DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Sterbová K; Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Haberlová J; Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Vyhnálková E; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Neupauerová J; DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Stanek D; DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Sedivá M; Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Krsek P; Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Seeman P; DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Neuropediatrics ; 50(1): 57-60, 2019 02.
Article in 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 AND

RESULTS:

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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Neurodegenerative Diseases / Pol1 Transcription Initiation Complex Proteins / Drug Resistant Epilepsy / Mutation Type of study: Etiology_studies Limits: Adolescent / Humans / Male Language: En Journal: Neuropediatrics Year: 2019 Type: Article Affiliation country: Czech Republic

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Neurodegenerative Diseases / Pol1 Transcription Initiation Complex Proteins / Drug Resistant Epilepsy / Mutation Type of study: Etiology_studies Limits: Adolescent / Humans / Male Language: En Journal: Neuropediatrics Year: 2019 Type: Article Affiliation country: Czech Republic