{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T17:04:46Z","timestamp":1784307886578,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Short rib\u2010polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants associated with the clinical features in a Chinese family affected by short rib\u2010polydactyly syndrome (SRPS),\n                    <jats:italic>DYNC2I1<\/jats:italic>\n                    \u2010related. A retrospective analysis of two adverse pregnancy histories in the family was conducted using genetic testing methods, including clinical exome sequencing, Sanger sequencing, amniotic fluid cell karyotype analysis, and chromosomal microarray analysis. Variants detected in the family were scored and classified according to ACMG guidelines, and a systematic analysis of clinically relevant variants was performed. A homozygous variant in the\n                    <jats:italic>DYNC2I1<\/jats:italic>\n                    gene, NM_018051.5:c.1526A&gt;T p.(Asp509Val), was identified in both fetuses affected by polydactyly and short rib\u2010polydactyly syndrome in the family and inherited from asymptomatic parents, consistent with a recessive inheritance pattern. This variant has not been reported in HGMD or PubMed and is classified as likely pathogenic according to ACMG guidelines. Based on PolyPhen\u20102 and PROVEAN pathogenicity predictions, it is considered a deleterious variant. We report a novel homozygous variant in the\n                    <jats:italic>DYNC2I1<\/jats:italic>\n                    gene inherited from asymptomatic parents. This finding expands the spectrum of genetic variants seen in SRPS patients related to\n                    <jats:italic>DYNC2I1<\/jats:italic>\n                    and demonstrates the feasibility of clinical exome sequencing for prenatal diagnosis of SRPS.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72795","type":"journal-article","created":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T05:13:46Z","timestamp":1779858826000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of Short Rib\u2010Polydactyly Syndrome (\n                    <scp>SRPS<\/scp>\n                    ),\n                    <i>DYNC2I1<\/i>\n                    \u2010Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing"],"prefix":"10.1002","volume":"14","author":[{"given":"Shiyao","family":"Xian","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and Reproductive Medicine of Jiangmen  Jiangmen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Zhao","sequence":"additional","affiliation":[{"name":"The First Clinical Collage of Hainan Medical University Hainan Medical University  Haikou Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and Reproductive Medicine of Jiangmen  Jiangmen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihua","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and Reproductive Medicine of Jiangmen  Jiangmen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and Reproductive Medicine of Jiangmen  Jiangmen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miaolian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and Reproductive Medicine of Jiangmen  Jiangmen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suihua","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and Reproductive Medicine of Jiangmen  Jiangmen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0966-6872","authenticated-orcid":false,"given":"Qiang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jiangmen Central Hospital  Jiangmen Guangdong China"},{"name":"Clinical Transformation and Application Key Lab for Obstetrics and Gynecology, Pediatrics, and 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