Features include always present findings: Decreased body weight, Unilateral renal hypoplasia, Narrow mouth, and Thick vermilion border and others.

MCM5 encodes minichromosome maintenance complex component 5 (734 aa). Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Highest expression in Cells EBV-transformed lymphocytes (112.5 TPM) and Spleen (46.5 TPM).

Meier-Gorlin syndrome 8 is associated with mutations in the MCM5 gene on chromosome 22.

The MCM5 protein participates in MITF-M-dependent MCM5 gene expression pathway.

MCM5 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for MCM5 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features.

No clinical trials have been registered for Meier-Gorlin syndrome 8.

3 publications have been identified in PubMed for Meier-Gorlin syndrome 8. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

• Liu Y (2026). [PMID: 41719335](https://pubmed.ncbi.nlm.nih.gov/41719335/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

• Lin J (2025). [PMID: 41372273](https://pubmed.ncbi.nlm.nih.gov/41372273/). *Sci Rep*. [Basic Science / Preclinical]

• Alshahrani M (2025). [PMID: 40936854](https://pubmed.ncbi.nlm.nih.gov/40936854/). *J Orthop Case Rep*. [Case Report / Case Series]