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CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.

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Pathogenic CUL3 variants cause neurodevelopmental disorders. Cerebellar hypoplasia is a newly identified prenatal sonographic marker, aiding in early diagnosis and genetic counseling for CUL3-related conditions.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Prenatal Diagnosis

Background:

  • Pathogenic variants in the CUL3 gene are associated with a neurodevelopmental disorder.
  • The prenatal phenotype of this disorder is not fully characterized.

Purpose of the Study:

  • To expand the spectrum of prenatal sonographic findings in CUL3-related neurodevelopmental disorders.
  • To improve prenatal diagnosis and genetic counseling for affected families.

Main Methods:

  • A multi-center case series of seven new cases with pathogenic CUL3 variants.
  • Integration of new data with a literature review of 18 previously reported prenatal cases.
  • Exome sequencing was used to identify pathogenic CUL3 variants.

Main Results:

  • Intrauterine growth restriction and increased nuchal translucency are common but nonspecific findings.
  • Cerebellar hypoplasia was identified as a novel sonographic marker in three new cases.
  • Other observed anomalies included cardiac defects, abnormal brain sulcation, and skeletal abnormalities.

Conclusions:

  • Cerebellar hypoplasia is proposed as a significant sonographic marker for CUL3-related neurodevelopmental disorders.
  • The identification of cerebellar hypoplasia should increase suspicion for CUL3 variants.
  • This finding supports exome sequencing and aids in the clinical interpretation of CUL3 variants.