First study to directly compare gene mutation type in individuals with CHAMP1 disorder indicates key differences mountsinainyc
). Understanding varying genetic mechanisms within the same disease may help elucidate part of the wide clinical spectrum seen in these disorders.
Ascertainment bias is a limitation of most genetic studies, where individuals offered sequencing tests are often more severely affected than those offered microarrays . It might therefore have been predicted that the mutation group would be more severely affected because those individuals were more likely to be offered this type of test. However, we would expect to see more severely affected individuals with deletions if both genetic etiologies caused similar features.
In the era of novel therapies for neurogenetic disorders, including gene therapies, it is critical to elucidate whether mutations operate through LoF, GoF, or dominant negative mechanisms. A knockout mouse would have construct validity for a LoF mechanism, but only a mouse with a knockin of a clinical mutation would have construct validity for GoF or dominant negative mechanisms.
Overall, this study provides the first direct and prospective comparison of the clinical phenotype caused by mutations in. Clear clinical differences were identified between groups, with the deletion group having greater skills compared to the mutation group, despite clinically significant impairments present in both groups. Future studies with larger cohorts and using in vitro and in vivo functional studies are warranted to further classify these differences.
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