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April 21, 2026Molecular Genetics & Genomic MedicineOpen Access

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases

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Authors

YLYan‐Fang LiSZSong-hui ZhangZLZhen Li

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Overview

Trio whole-exome sequencing identifies prenatal microcephaly features in a family with recurrent cases, suggesting enhanced diagnostic strategies.

Key Points

  • This research aims to examine the prenatal diagnosis and phenotype of autosomal recessive microcephaly type 2 (MCPH2) caused by WDR62 variants.
  • Performed trio whole-exome sequencing on one affected fetus and his parents.
  • Prioritized genetic variants using population databases and computational predictions.
  • Confirmed findings with Sanger sequencing.
  • Prenatal imaging showed microcephaly and agenesis of the corpus callosum in affected fetuses.
  • Identified compound heterozygous WDR62 variants in one fetus, inherited from heterozygous parents.
  • Molecular diagnoses were confirmed in both fetuses, enhancing clinical utility.

Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/69e713fdcb99343efc98d735https://doi.org/10.1002/mgg3.70203
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  3. 3Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly2011 · 34 citations