What question did this study set out to answer?

This report aims to demonstrate the genetic basis of Meckel-Gruber syndrome through CC2D2A mutations.

Compound heterozygous mutations in CC2D2A cause Meckel–Gruber syndrome: a case report and review of the literature

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Case report uncovers compound heterozygous mutations in CC2D2A linked to polycystic kidney dysplasia and highlights WES for prenatal diagnosis.

This report aims to demonstrate the genetic basis of Meckel-Gruber syndrome through CC2D2A mutations.
Case report of a 30-year-old woman with prenatal ultrasound findings of fetal anomalies.
Whole-exome sequencing (WES) performed postmortem for genetic analysis.
Literature review on genotype-phenotype correlations for CC2D2A mutations.
Identified compound heterozygous mutations in CC2D2A.
Case exhibited triad of occipital encephalocele, polycystic kidney dysplasia, and postaxial polydactyly.
Prenatal ultrasonography proved critical for early detection of MGS.

Liu et al. (2026) studied this question.

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Case report uncovers compound heterozygous mutations in CC2D2A linked to polycystic kidney dysplasia and highlights WES for prenatal diagnosis.