Your browser doesn't support javascript.
loading
Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder.
Kaneko, Maki; Rosser, Tena; Raca, Gordana.
Afiliação
  • Kaneko M; Center for Personalized Medicine, Children's Hospital, Los Angeles, 2100 West 3rd St, Los Angeles, CA, 90057, USA; Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.
  • Rosser T; Department of Neurology, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.
  • Raca G; Center for Personalized Medicine, Children's Hospital, Los Angeles, 2100 West 3rd St, Los Angeles, CA, 90057, USA; Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA; Keck-USC School of Medicine, 1975 Zonal Ave, Los Angeles, CA, 90033, USA. Electronic address: graca@chla.usc.edu.
Eur J Med Genet ; 64(1): 104121, 2021 Jan.
Article em En | MEDLINE | ID: mdl-33307280
ABSTRACT
The EEF1A2 gene encodes eukaryotic translation elongation factor 1α2, an integral component of the elongation factor complex. Heterozygous pathogenic variants in EEF1A2 are associated with neurodevelopmental disorders characterized by epilepsy, global developmental delay, and autism. To date, dilated cardiomyopathy has only been reported in two siblings with neurodevelopmental phenotypes and a homozygous missense variant in EEF1A2. This report describes a nine-year-old female patient who presented with neurodevelopmental phenotypes and dilated cardiomyopathy. Analysis of 193 epilepsy genes by focused exome sequencing revealed a novel heterozygous variant c.46G > C (p.Val16Leu; NM_001958.3) in EEF1A2. The variant was not detected in either parent, confirming its de novo origin. No additional variants that explain the patient's phenotypes were found by subsequent whole exome analysis. Copy number analysis of the exome data and exon-level microarray excluded a deletion in the other allele of EEF1A2. We present the first patient with a heterozygous pathogenic EEF1A2 variant who had dilated cardiomyopathy as well as neurodevelopmental phenotypes, suggesting that this cardiac phenotype may be associated with the autosomal dominant form of the EEF1A2-related disorder.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Deficiências do Desenvolvimento / Fator 1 de Elongação de Peptídeos Limite: Child / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Deficiências do Desenvolvimento / Fator 1 de Elongação de Peptídeos Limite: Child / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article