The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Biomed Res Int. 2020 May 23:2020:2149342. doi: 10.1155/2020/2149342. eCollection 2020.


Introduction: Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia. ECEL1 is a DA5D causative gene that encodes a membrane-bound metalloprotease. ECEL1 plays important roles in the final axonal arborization of motor nerves in limb skeletal muscles and neuromuscular junction formation during prenatal development.

Methods: A DA5D family with webbing of the elbows and fingers was recruited. We performed whole-exome sequencing (WES) and filtered mutations by disease-causing genes of arthrogryposis multiplex congenita (AMC). Mutational analysis and cosegregation confirmation were then performed.

Results: We identified novel compound heterozygous mutations of ECEL1 (NM_004826: c.69C>A, p.C23∗ and c.1810G>A, p.G604R) in the proband.

Conclusions: We detected causative mutations in a DA5D family, expanding the spectrum of known ECEL1 mutations and contributing to the clinical diagnosis of DA5D.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis* / genetics
  • Arthrogryposis* / pathology
  • Arthrogryposis* / physiopathology
  • Child
  • DNA Mutational Analysis
  • Humans
  • Male
  • Metalloendopeptidases / genetics*
  • Mutation / genetics*
  • Ophthalmoplegia* / genetics
  • Ophthalmoplegia* / pathology
  • Ophthalmoplegia* / physiopathology
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics
  • Retinal Diseases* / genetics
  • Retinal Diseases* / pathology
  • Retinal Diseases* / physiopathology


  • ECEL1 protein, human
  • Metalloendopeptidases

Supplementary concepts

  • Oculomelic amyoplasia