{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T06:00:43Z","timestamp":1774418443936,"version":"3.50.1"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T00:00:00Z","timestamp":1566950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2019.00343","type":"journal-article","created":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T16:51:52Z","timestamp":1567011112000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":17,"title":["Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)"],"prefix":"10.3389","volume":"7","author":[{"given":"Muhammad","family":"Umair","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amjad","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amir","family":"Hayat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Safdar","family":"Abbas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulaziz","family":"Asiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Younus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wajid","family":"Amin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoaib","family":"Nawaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shazia","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erum","family":"Malik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farooq","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,8,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M","article-title":"Arevised and extended classification of the distal arthrogryposes","volume":"65","author":"Bamshad","year":"1996","journal-title":"Am J Med Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1483","DOI":"10.1093\/hmg\/dds514","article-title":"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis","volume":"15","author":"Dieterich","year":"2013","journal-title":"Hum Mol Genet"},{"key":"B3","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s00401-016-1554-0","article-title":"ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis","volume":"132","author":"Nagata","year":"2016","journal-title":"Acta Neuropathol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.1002\/ajmg.a.38691","article-title":"A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases","volume":"176","author":"Stattin","year":"2018","journal-title":"Am J Med Genet A"},{"key":"B5","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1086\/368294","article-title":"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes","volume":"72","author":"Sung","year":"2003","journal-title":"Am J Hum Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1038\/ng1775","article-title":"Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome","volume":"38","author":"Toydemir","year":"2006","journal-title":"Nat Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1086\/376418","article-title":"Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B","volume":"73","author":"Sung","year":"2003","journal-title":"Am J Hum Genet"},{"key":"B8","doi-asserted-by":"publisher","first-page":"2387","DOI":"10.1002\/ajmg.a.31495","article-title":"Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8","volume":"140","author":"Toydemir","year":"2006","journal-title":"Am J Med Genet A"},{"key":"B9","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1016\/j.nmd.2018.05.012","article-title":"ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects","volume":"28","author":"Ullmann","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"B10","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1097\/MCD.0000000000000236","article-title":"Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D","volume":"27","author":"Rai","year":"2018","journal-title":"Clin Dysmorphol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1038\/ejhg.2017.83","article-title":"Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb","volume":"25","author":"Umair","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"B12","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1038\/pr.2017.149","article-title":"Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3","volume":"82","author":"Umair","year":"2017","journal-title":"Pediatr Res"},{"key":"B13","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/jhg.2015.129","article-title":"Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families","volume":"61","author":"Umair","year":"2016","journal-title":"J Hum Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.ejmg.2017.11.015","article-title":"Pakistan genetic mutation database (PGMD); a centralized Pakistani mutome data source","volume":"61","author":"Qasim","year":"2018","journal-title":"Eur J Med Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat Methods"},{"key":"B16","doi-asserted-by":"publisher","first-page":"2857","DOI":"10.1002\/ajmg.a.36702","article-title":"Distal arthrogryposis type 5D with a novel ECEL1 gene mutation","author":"Patil","year":"2014","journal-title":"Am J Med Genet A"},{"key":"B17","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1002\/ajmg.a.37018","article-title":"ECEL1 mutation causes fetal arthrogryposis multiplex congenita","author":"Dohrn","year":"2015","journal-title":"Am J Med Genet A"},{"key":"B18","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1159\/000456034","article-title":"A novel variant in the endothelin-converting enzyme-like 1 (ECEL1) gene in an emirati child","volume":"26","author":"Hamzeh","year":"2017","journal-title":"Med Princ Pract"},{"key":"B19","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1111\/cge.12226","article-title":"Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D","volume":"85","author":"Shaheen","year":"2014","journal-title":"Clin Genet"},{"key":"B20","first-page":"97","article-title":"Whole exome sequencing as a diagnostic tool for genetic disorders in Pakistan","volume":"57","author":"Umair","year":"2018","journal-title":"Pak J Med Res"},{"key":"B21","doi-asserted-by":"publisher","first-page":"100559","DOI":"10.1016\/j.mgene.2019.100559","article-title":"A comprehensive review of genetic skeletal disorders reported from Pakistan: a brief commentary","volume":"20","author":"Umair","year":"2019","journal-title":"Meta Gene"},{"key":"B22","doi-asserted-by":"publisher","first-page":"6954","DOI":"10.1523\/JNEUROSCI.4521-09.2010","article-title":"Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions","volume":"30","author":"Nagata","year":"2010","journal-title":"J Neurosci"},{"key":"B23","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1111\/cge.12224","article-title":"Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes","volume":"85","author":"Shaaban","year":"2014","journal-title":"Clin Genet"},{"key":"B24","doi-asserted-by":"publisher","first-page":"20450","DOI":"10.1074\/jbc.274.29.20450","article-title":"Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family","volume":"274","author":"Schweizer","year":"1999","journal-title":"J Biol Chem"},{"key":"B25","doi-asserted-by":"publisher","first-page":"21895","DOI":"10.1074\/jbc.M008511200","article-title":"Neprilysin degrades both amyloid beta peptides 1\u201340 and 1\u201342 most rapidly and efficiently amongthiorphan- and phosphoramidon-sensitive endopeptidases","volume":"276","author":"Shirotani","year":"2001","journal-title":"Biol Chem"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00343\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T16:51:55Z","timestamp":1567011115000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00343\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,28]]},"references-count":25,"alternative-id":["10.3389\/fped.2019.00343"],"URL":"https:\/\/doi.org\/10.3389\/fped.2019.00343","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,28]]},"article-number":"343"}}