Study expands prenatal phenotype by identifying cerebellar hypoplasia as a new marker for CUL3-related disorders, implying enhanced diagnostic accuracy.
This study expands on the known prenatal phenotype of CUL3-related neurodevelopmental disorders, proposing cerebellar hypoplasia as a new sonographic marker. The presence of cerebellar hypoplasia should significantly raise suspicion for a CUL3-related neurodevelopmental disorder. This finding provides a strong rationale for pursuing exome sequencing and serves as critical evidence for the clinical interpretation of CUL3 variants.
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Gofin et al. (2026) studied this question.
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