Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.
J Investig Med High Impact Case Rep
; 8: 2324709620957777, 2020.
Article
em En
| MEDLINE
| ID: mdl-32924626
The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Endopeptidases
/
Anormalidades Múltiplas
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
/
Male
País como assunto:
Mexico
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article