Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene.

A female with a de novo nonsense CHD7 variant (c.6292C>T) in CHARGE syndrome survived to school age, demonstrating that this mutation can be compatible with favorable long-term outcomes.

• Why it matters: Understanding the variability in clinical outcomes for individuals with identical pathogenic variants is crucial for prognosis and management of CHARGE syndrome, which shows broad phenotypic diversity.
• What they did: The authors conducted a long-term follow-up of a patient with a known pathogenic CHD7 mutation, utilizing comprehensive multidisciplinary management and genetic analysis, including whole-exome sequencing.
• The result: The case reveals that even severe neonatal multisystem involvement can result in positive long-term survival, emphasizing the importance of early diagnosis and personalized care in improving prognosis for CHARGE syndrome patients.