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Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in <jats:italic>DYNC2H1<\/jats:italic>. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.<\/jats:p>","DOI":"10.1038\/s41439-024-00302-y","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T01:43:05Z","timestamp":1733190185000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing"],"prefix":"10.1038","volume":"11","author":[{"given":"Erika","family":"Nakajima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Yokohama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saori","family":"Sugiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mio","family":"Taketazu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenrokuro","family":"Mitsube","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Hammarsj\u00f6","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9601-3137","authenticated-orcid":false,"given":"Giedre","family":"Grigelioniene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0341-5709","authenticated-orcid":false,"given":"Yoshio","family":"Makita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,3]]},"reference":[{"key":"302_CR1","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","volume":"191","author":"S Unger","year":"2023","unstructured":"Unger, S. et al. Nosology of genetic skeletal disorders: 2023 revision. Am. J. Med. Gene A 191, 1164\u20131209 (2023).","journal-title":"Am. J. Med. Gene A"},{"key":"302_CR2","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1148\/122.2.443","volume":"122","author":"P Naumoff","year":"1977","unstructured":"Naumoff, P., Young, L. W., Mazer, J. & Amortegui, A. J. Short rib-polydactyly syndrome type 3. Radiology 122, 443\u2013447 (1977).","journal-title":"Radiology"},{"key":"302_CR3","unstructured":"Krakow, D. in Obstetric Imaging: Fetal Diagnosis and Care 2nd edn. (Elsevier, 2018)."},{"key":"302_CR4","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1111\/j.1447-0756.2010.01324.x","volume":"37","author":"T Yamada","year":"2011","unstructured":"Yamada, T. et al. Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. J. Obstet. Gynaecol. Res. 37, 151\u2013155 (2011).","journal-title":"J. Obstet. Gynaecol. 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Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an \u201cultrasound first\u201d approach. J. Matern. Fetal Neonatal. Med. 36, 2205985 (2023).","journal-title":"J. Matern. Fetal Neonatal. Med."},{"key":"302_CR8","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.ajhg.2011.03.015","volume":"88","author":"P Mill","year":"2011","unstructured":"Mill, P. et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am. J. Hum. Genet. 88, 508\u2013515 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"302_CR9","unstructured":"Japanese Society of Ultrasound in Medicine TaDCC. Standardization of ultrasound fetal measurements and Japanese reference values 2003. J. Med. Ultrason. http:\/\/www.jsum.or.jp\/committee\/\/diagnostic\/pdf\/taiji (2024)."},{"key":"302_CR10","doi-asserted-by":"crossref","unstructured":"Chen, L. S. et al. Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. Genet. Mol. Res. 15, gmr.15028134 (2016).","DOI":"10.4238\/gmr.15028134"},{"key":"302_CR11","doi-asserted-by":"crossref","unstructured":"Xia, C. L. et al. Radiological and histopathological features of short rib\u2011polydactyly syndrome type III and identification of two novel DYNC2H1 variants. Mol. Med. Rep. 23, 426 (2021).","DOI":"10.3892\/mmr.2021.12065"},{"key":"302_CR12","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s00247-018-4239-0","volume":"49","author":"AC Offiah","year":"2019","unstructured":"Offiah, A. C., Vockley, J., Munns, C. F. & Murotsuki, J. Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr. Radio. 49, 3\u201322 (2019).","journal-title":"Pediatr. 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Written informed consent for participation in the study and the publication of the patient\u2019s clinical data and images was obtained from the parents.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"44"}}