A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction

Eur J Med Genet. 2021 May 26:104251. doi: 10.1016/j.ejmg.2021.104251. Online ahead of print.ABSTRACTAlpha-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.PMID:34051360 | DOI:10.1016/j.ejmg.2021.104251
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research