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Article

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

Journal of medical case reports - 4 May 2026

Liu Lixin, Lv Yan, Zhou Xiya

Abstract excerpt

BACKGROUND: Meckel-Gruber syndrome is a rare autosomal recessive ciliopathy characterized by the triad of occipital encephalocele, polycystic kidney dysplasia, and postaxial polydactyly, with an estimated incidence of 1:13,250 to 1:140,000 live births. Pathogenic variants in CC2D2A, encoding a ciliary transition zone protein, account for 5-15% of MGS cases. This report highlights the diagnostic utility of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42083041
DOI: 10.1186/s13256-026-06070-3
PMCID: PMC13288813

Genes

CC2D2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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