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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\u2010shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia. <jats:italic>ECEL1<\/jats:italic> is a DA5D causative gene that encodes a membrane\u2010bound metalloprotease. ECEL1 plays important roles in the final axonal arborization of motor nerves in limb skeletal muscles and neuromuscular junction formation during prenatal development. <jats:italic>Methods<\/jats:italic>. A DA5D family with webbing of the elbows and fingers was recruited. We performed whole\u2010exome sequencing (WES) and filtered mutations by disease\u2010causing genes of arthrogryposis multiplex congenita (AMC). Mutational analysis and cosegregation confirmation were then performed. <jats:italic>Results<\/jats:italic>. We identified novel compound heterozygous mutations of <jats:italic>ECEL1<\/jats:italic> (NM_004826: c.69C&gt;A, p.C23\u2217 and c.1810G&gt;A, p.G604R) in the proband. <jats:italic>Conclusions<\/jats:italic>. We detected causative mutations in a DA5D family, expanding the spectrum of known <jats:italic>ECEL1<\/jats:italic> mutations and contributing to the clinical diagnosis of DA5D.<\/jats:p>","DOI":"10.1155\/2020\/2149342","type":"journal-article","created":{"date-parts":[[2020,5,27]],"date-time":"2020-05-27T23:34:48Z","timestamp":1590622488000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The Novel Compound Heterozygous Mutations of <i>ECEL1<\/i> Identified in a Family with Distal Arthrogryposis Type 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