Tohoku University Hospital Reports Findings in CHARGE Syndrome (CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report).

A recent report from Tohoku University Hospital in Sendai, Japan, discusses a case of CHARGE syndrome in a Japanese boy. CHARGE syndrome is a condition characterized by various symptoms, including hearing loss and genital abnormalities. In this particular case, the boy also had optic nerve hypoplasia, which is atypical for the syndrome. Genetic analysis revealed a missense variant in the SOX2 gene and a novel nonsense variant in the CHD7 gene. The researchers suggest that the interactions between these two genes may have influenced the symptoms independently or reciprocally. [Extracted from the article]