{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:53:37Z","timestamp":1790009617780,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T00:00:00Z","timestamp":1516665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Key Disciplines Group Construction Project of Pudong Health Bureau of Shanghai","award":["PWZxq2014-02"],"award-info":[{"award-number":["PWZxq2014-02"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short\u2010rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, polydactyly and multiple malformations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cytogenetic and molecular analyses using GTG\u2010banding, single nucleotide polymorphism array and a novel GSDs targeted gene panel sequencing were performed in a 24 weeks fetus with increased biparietal diameter (BPD), short limbs, narrow thorax and polyhydramnios.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No chromosomal abnormalities and pathogenic copy number variations (CNVs) were detected in the fetus. Two novel compound heterozygous mutations c.2992C\u2009&gt;\u2009T and c.12836G\u2009&gt;\u2009C in the <jats:italic>DYNC2H1<\/jats:italic> gene were identified by targeted genes panel sequencing. A literature review was performed to delineate the prenatal phenotype of SRPS Type III.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of prenatal diagnosis of <jats:italic>DYNC2H1<\/jats:italic> mutations causing SRPS Type III in a fetus with increased BPD associated with polyhydramnios in China. Our findings expand the mutation spectrum of <jats:italic>DYNC2H1<\/jats:italic> in this rare disease and demonstrate that targeted gene panel capture followed by next\u2010generation sequencing (NGS) is an efficient and cost\u2010effective method to perform a molecular prenatal diagnosis of a rare genetic skeletal disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1146","type":"journal-article","created":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T05:16:43Z","timestamp":1516684603000},"page":"364-371","source":"Crossref","is-referenced-by-count":7,"title":["Targeted gene panel sequencing prenatally detects two novel mutations of <i>DYNC2H1<\/i> in a fetus with increased biparietal diameter and polyhydramnios"],"prefix":"10.1002","volume":"110","author":[{"given":"Linbei","family":"Deng","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine Unit and Prenatal Diagnosis Center Shanghai First Maternity and Infant Hospital of Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine, One Baylor Plaza Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric S.","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine, One Baylor Plaza Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiyi","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Unit and Prenatal Diagnosis Center Shanghai First Maternity and Infant Hospital of Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meizhen","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Unit and Prenatal Diagnosis Center Shanghai First Maternity and Infant Hospital of Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhonghai","family":"Chen","sequence":"additional","affiliation":[{"name":"Beijing Genomics Institute at Shenzhen Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Chen","sequence":"additional","affiliation":[{"name":"Beijing Genomics Institute at Shenzhen Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9457-7764","authenticated-orcid":false,"given":"Luming","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Unit and Prenatal Diagnosis Center Shanghai First Maternity and Infant Hospital of Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1202393"},{"key":"e_1_2_6_4_1","first-page":"1","article-title":"Identification of novel DYNC2H1 mutations associated with short rib\u2010polydactyly syndrome type III using next\u2010generation panel sequencing","volume":"15","author":"Chen L. 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