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CEP135 associated primary microcephaly-A rare presentation in early second trimester.

Gayatri Nerakh1, K Mounika1, K Geeta1

  • 1Department of Fetal Medicine, Fernandez Foundation, Hyderabad, India.

European Journal of Medical Genetics
|May 2, 2021
PubMed
Summary

This study reports a rare case of recurrent fetal microcephaly, identifying compound heterozygous variants in the CEP135 gene. This finding enables definitive prenatal diagnosis and genetic counseling for primary microcephaly-8.

Keywords:
CEP135, primary microcephalyCraniosynostosisFetal autopsyPrenatal diagnosisSemilobar holoprosencephalyWhole exome sequencing

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Area of Science:

  • Neurogenetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Primary microcephaly (MCPH) is a rare, often inherited neurodevelopmental disorder.
  • Autosomal recessive inheritance is the most common pattern for MCPH.
  • Accurate genetic diagnosis is crucial for understanding disease mechanisms and recurrence risks.

Observation:

  • A case of recurrent fetal microcephaly with agenesis of corpus callosum, cerebellar hypoplasia, and ventriculomegaly is presented.
  • Maternal TORCH testing and amniotic fluid chromosomal microarray were normal.
  • Autopsy revealed evolving craniosynostosis and semilobar holoprosencephaly.

Findings:

  • Whole exome sequencing identified compound heterozygous pathogenic variants (c.2863C>T and c.1372_1375del) in the CEP135 gene in fetal DNA.
  • These variants are associated with primary microcephaly-8 (MCPH8).
  • Both parents were confirmed as heterozygous carriers.

Implications:

  • Next-generation sequencing (NGS) facilitates definitive prenatal diagnosis of primary microcephaly.
  • Identification of causative genes like CEP135 improves genetic counseling for affected families.
  • Advances in exome sequencing enhance the understanding and management of rare neurodevelopmental disorders.