DE-098 / Santen, Argenes - LARVOL DELTA

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. (PubMed, Front Genet) - "Trio-based whole-exome sequencing identified a de novo heterozygous nonsense pathogenic variant, c.6292(EXON31)C>T (p.Arg2098*), in the CHD7 gene...By presenting divergent outcomes associated with the same pathogenic variant, our findings enrich the clinical evidence on CHD7 genotype-phenotype correlations. Even with severe neonatal multisystem involvement, proactive and individualized management can achieve favorable long-term outcomes."

Journal • Cardiovascular

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