Molecular Characteristics for Families

Gamma subunit of the nicotinic acetylcholine receptor is composed by a large extracellular N-terminal ligand-binding region, four transmembrane domains and a large cytoplasmic domain. The disease-causing mutations in the patients with CHRNG-related multiple pterygium syndrome are mostly located in the extracellular domain.
Neither the mutation type nor its position in the gene appeared to correlate with the severity of the phenotype. Mutations c.459dupA (p.Val154SfsX24) and c.753_754delCT (p.Val253AfsX44) are recurrent and both have been identified in diverse ethnic groups.