{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T13:15:07Z","timestamp":1761311707496,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T00:00:00Z","timestamp":1605916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetal akinesia and contractures can be caused by mutations in various genes that lead to overlapping phenotypes with contractures, rocker bottom feet, cerebellar hypoplasia, ventriculomegaly, growth retardation, pulmonary hypoplasia, cystic hygroma and cleft palate in various combinations. Cerebro\u2010oculo\u2010facio\u2010skeletal (COFS) syndrome is a condition resulting from defects in DNA repair pathway, and genes involved include <jats:italic>ERCC1<\/jats:italic> (COFS), <jats:italic>ERCC2<\/jats:italic> (XPD), <jats:italic>ERCC5<\/jats:italic>(XPG), and <jats:italic>ERCC6<\/jats:italic> (CSB). It is a severe disorder presenting in fetal or neonatal period with microcephaly, arthrogryposis, prominent nose, and kyphoscoliosis, and leads to early death in childhood. We report a baby with antenatally identified arthrogryposis in which the homozygous pathogenic variant in exon 8 was identified in <jats:italic>ERCC5<\/jats:italic> gene, by targeted next generation sequencing. This was predicted to cause premature chain termination in the protein. <jats:italic>ERCC5<\/jats:italic> gene is mainly implicated in xeroderma pigmentosum, sometimes in COFS syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61979","type":"journal-article","created":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T13:01:30Z","timestamp":1605963690000},"page":"631-635","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>COFS<\/scp> type 3 in an Indian family with antenatally detected arthrogryposis"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"first","affiliation":[{"name":"Department of Pediatrics PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bangalore Anantharamu","family":"Shankar Prasad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harleen","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasvinder","family":"Kalra","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.013"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13798"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0408-0"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00111"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36506"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.002"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105222"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61520"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2012.01446.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3116"},{"key":"e_1_2_9_12_1","unstructured":"Online Mendelian Inheritance in Man (OMIM). (2019).Baltimore MD: McKusick\u2010Nathans Institute of Genetic Medicine John Hopkins University.https:\/\/omim.org\/."},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-017-3957-z"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22259"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2014.12.004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61979","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61979","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61979","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T01:24:04Z","timestamp":1692235444000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,21]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1002\/ajmg.a.61979"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61979","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,11,21]]},"assertion":[{"value":"2020-07-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}