A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Eur J Med Genet
; 64(8): 104251, 2021 Aug.
Article
em En
| MEDLINE
| ID: mdl-34051360
ABSTRACT
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by a mutation in ATRX, which is essential for proper chromatin remodeling. ATRX dysfunction leads to dysregulation of many genes due to abnormal chromatin remodeling, and causes a multisystem disorder in patients with ATR-X. Because mitochondrial disorders also show multisystem involvement, whether mitochondrial function is affected in patients with ATR-X is of interest. Here, we report a case of a 4-year-old male with a mutation (NM_000489.4 c.736C > T p.Arg246Cys) in ATRX, who showed mitochondrial dysfunction with complex I deficiency. The results from our study suggest that target genes of the ATRX protein may include those responsible for mitochondrial function, and mitochondrial dysfunction may contribute to some ATR-X phenotypes.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Talassemia alfa
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Complexo I de Transporte de Elétrons
/
Proteína Nuclear Ligada ao X
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article