CHRNG encodes cholinergic receptor nicotinic gamma subunit (517 aa). After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane Highest expression in Muscle Skeletal (17.1 TPM) and Testis (0.2 TPM).

Autosomal recessive multiple pterygium syndrome is associated with mutations in the CHRNG gene on chromosome 2.

CHRNG is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.7.

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

Biomarker and diagnostic research for autosomal recessive multiple pterygium syndrome has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 4 very common features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal recessive multiple pterygium syndrome.

6 publications have been identified in PubMed for autosomal recessive multiple pterygium syndrome. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Kido J (2026). [PMID: 41826296](https://pubmed.ncbi.nlm.nih.gov/41826296/). *Hum Genome Var*. [Basic Science / Preclinical]

• Fabregas A (2026). [PMID: 41774532](https://pubmed.ncbi.nlm.nih.gov/41774532/). *J Pediatr Orthop*. [Review / Meta-Analysis]

• Osman N (2025). [PMID: 40524706](https://pubmed.ncbi.nlm.nih.gov/40524706/). *AJOG Glob Rep*. [Diagnostic / Biomarker]

• Manjunathan S (2024). [PMID: 38870465](https://pubmed.ncbi.nlm.nih.gov/38870465/). *Neurology*. [Case Report / Case Series]

• McNamee L (2024). [PMID: 38924341](https://pubmed.ncbi.nlm.nih.gov/38924341/). *Am J Med Genet A*. [Case Report / Case Series]