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Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations

Jieun Seo1, In-Ho Choi2, Je Sang Lee3

  • 1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.

Journal of Human Genetics
|January 23, 2015
PubMed

Insights

Multiple pterygium syndrome (MPS), a genetic disorder affecting joint mobility, is linked to novel mutations in the CHRNG gene. This study identifies new CHRNG variants causing arthrogryposis multiplex in Korean families.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Multiple pterygium syndrome (MPS) is an autosomal recessive disorder characterized by joint contractures and akinesia.
  • MPS presents in two forms: Escobar type (milder) and lethal type (severe).
  • Mutations in the CHRNG gene, encoding the acetylcholine receptor gamma subunit, are a primary cause of MPS.

Purpose of the Study:

  • To investigate the genetic basis of congenital arthrogryposis multiplex in two unrelated Korean families.
  • To identify novel genetic variants associated with Multiple Pterygium Syndrome.

Main Methods:

  • Clinical evaluation of three patients from two families presenting with multiple joint contractures.
  • Peripheral blood karyotyping to rule out chromosomal abnormalities.
  • Whole-exome sequencing to identify genetic variants in affected individuals.

Main Results:

  • All patients exhibited multiple joint contractures, high-arched palates, malocclusion, short neck, and micrognathia.
  • Normal peripheral blood karyotypes were confirmed.
  • Whole-exome sequencing revealed identical novel recessive CHRNG variants (p.Pro143Arg and p.Pro251fs*45) in all patients.

Conclusions:

  • The study identified novel recessive CHRNG variants as a cause of congenital arthrogryposis multiplex in Korean kindreds.
  • These findings expand the spectrum of CHRNG-related disorders and contribute to understanding MPS genetics.

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