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ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.

Mounika EndrakantiJyoti SharmaAbdul S EthayathullaPunit KaurShah Alam KhanMadhulika KabraNeerja Gupta
Published in: American journal of medical genetics. Part A (2024)
Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or without scoliosis could be an important early pointer to DA5D. We also report a possible founder variant in ECEL1 along with four novel variants and further expand the genotypic spectrum of DA5D.
Keyphrases
  • minimally invasive
  • total knee arthroplasty
  • knee osteoarthritis
  • copy number
  • gene expression
  • cord blood
  • drug induced