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Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.

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Genetic variants in the TRAPPC12 gene were linked to recurrent fetal hydrocephalus in a family. This discovery offers new insights into the genetic causes of this complex brain development disorder.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neurology

Background:

  • Hydrocephalus, a condition of increased cerebrospinal fluid, affects 1 in 1,000 live births.
  • It is a heterogeneous disorder with numerous genetic and environmental causes, complicating diagnosis.

Observation:

  • Whole exome sequencing was performed on two fetuses with hydrocephalus and their parents from a family with three affected pregnancies.
  • The study identified compound heterozygous alterations in the TRAPPC12 gene in the affected fetuses.

Findings:

  • The identified TRAPPC12 variants, one causing premature transcript termination and the other affecting RNA splicing, were inherited from the parents.
  • These compound heterozygous variants in TRAPPC12 may impair Golgi trafficking and mitosis.

Implications:

  • Disruption of TRAPPC12 function could lead to abnormal brain embryogenesis, resulting in fetal hydrocephalus and recurrent pregnancy loss.
  • This finding expands the known genetic factors contributing to hydrocephalus and recurrent pregnancy loss.