A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype

Alexander J Sandweiss; Shalinkumar Patel; Mohammad Y Bader; Ranjit I Kylat

doi:10.1055/s-0040-1715640

A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype

J Pediatr Genet. 2020 Aug 26;11(2):144-146. doi: 10.1055/s-0040-1715640. eCollection 2022 Jun.

Authors

Alexander J Sandweiss^{1

2}, Shalinkumar Patel¹, Mohammad Y Bader¹, Ranjit I Kylat¹

Affiliations

¹ Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona, United States.
² Section of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States.

Abstract

Escobar syndrome is a milder variant of multiple pterygium syndrome characterized by pterygia, scoliosis, and multiple congenital contractures. It is most frequently due to a genetic variant in CHRNG , which encodes the γ-subunit of the nicotinic acetylcholine receptor. Though the subunit is considered a "fetal" form and transitions to the "adult" ε-subunit by 33 weeks' gestation, the pathogenic musculoskeletal effects during fetal development render children with this condition permanently affected. We report a neonate with homozygous CHRNG c.117dupC and discuss some of the downstream clinical effects we observed with this variant.

Keywords: CHRNG; arthrogryposis multiplex congenita; multiple pterygium syndrome; nicotinic acetylcholine receptor.

Publication types

Case Reports

Grants and funding

Funding None.