Background: Escobar syndrome, a nonlethal variant of multiple pterygium 
syndromes (MPS), is a rare autosomal recessive disorder characterized by 
pterygia and multiple joint contractures along with other anomalies. Variants in 
cholinergic receptor nicotinic gamma subunit (CHRNG) have been previously 
reported in patients with Escobar syndrome. Objective: We studied a 
consanguineous Pakistani family affected with Escobar syndrome to identify the 
underlying genetic defect through short tandem repeat (STR) genotyping and 
direct DNA sequencing. Results: Genotyping with microsatellite markers (D2S427, 
D2S2344, and D2S206) revealed linkage of the disease phenotype in the family to 
the CHRNG locus. Using Sanger sequencing, we identified a homozygous nonsense 
CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that 
leads to acetylcholine receptor deficiency, causing MPS. The unaffected parents 
and siblings in the family were heterozygous carriers of this disease-causing 
variant. Conclusion: We report the identification of a nonsense CHRNG variant in 
a consanguineous Pakistani family affected with Escobar syndrome.