{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:50Z","timestamp":1787014010038,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T00:00:00Z","timestamp":1735948800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1\/3000 to 1\/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis\u2010splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle. This is a reported case of an affected family with a noncoding, splice site\n                    <jats:italic>SENP7<\/jats:italic>\n                    variant, expanding the spectrum of\n                    <jats:italic>SENP7<\/jats:italic>\n                    as a causative gene in rare cases of lethal AMC.\n                  <\/jats:p>","DOI":"10.1111\/cge.14698","type":"journal-article","created":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T04:44:48Z","timestamp":1735965888000},"page":"688-693","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Splice Site Variant in\n                    <i>SENP7<\/i>\n                    Results in a Severe Form of Arthrogryposis"],"prefix":"10.1111","volume":"107","author":[{"given":"Udhaya","family":"Kotecha","sequence":"first","affiliation":[{"name":"Neuberg Center for Genomic Medicine  Ahmedabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Euri S.","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Medicine Brigham and Women's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parth S.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Dartmouth Hitchcock Medical Center  Hanover New Hampshire USA"},{"name":"Section of Hematology Dartmouth Cancer Center  Hanover New Hampshire USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidhi","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Dartmouth Hitchcock Medical Center  Hanover New Hampshire USA"},{"name":"Genetics and Child Development Dartmouth Health Children's Center  Lebanon New Hampshire 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