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J Pediatr Genet 2022; 11(02): 144-146
DOI: 10.1055/s-0040-1715640
Case Report

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

Alexander J. Sandweiss 
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
,
Shalinkumar Patel
1   Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona, United States
,
Mohammad Y. Bader
1   Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona, United States
,
Ranjit I. Kylat 
1   Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona, United States
› Institutsangaben Funding None.
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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

Ethical Approval

Parental permission was obtained for publication.


Supplementary Material



Publikationsverlauf

Eingereicht: 18. März 2020

Angenommen: 15. Juli 2020

Artikel online veröffentlicht:
26. August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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