{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:42Z","timestamp":1747151382605,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T00:00:00Z","timestamp":1701907200000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trio exome sequencing was performed on a fetus with bilateral mesomelia of the lower limbs with significant angulation of the tibial bones, micrognathia and hypertelorism detected on ultrasound scan at 19\u00a0+\u00a00\u00a0weeks gestation. The couple is consanguineous. A homozygous pathogenic frameshift variant in the <jats:italic>SMOC1<\/jats:italic> gene (c.339_340del p.(Phe114Cysfs*40)) was detected and both parents were shown to be heterozygous. Pathogenic variants in the <jats:italic>SMOC1<\/jats:italic> gene are associated with microphthalmia with limb anomalies which multidisciplinary team discussion determined to be causal of the scan anomalies detected. The fetus was also a compound heterozygote for <jats:italic>CYP21A2<\/jats:italic> pathogenic variants, confirming a second diagnosis of non\u2010classical congenital adrenal hyperplasia, which was felt incidental to the scan findings. The risk that this couple's next pregnancy would be affected by either of these disorders is 1 in 4 (25%) and demonstrates the importance of genetic diagnoses for the family and implications for future pregnancies.<\/jats:p>","DOI":"10.1002\/pd.6485","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T04:22:45Z","timestamp":1702009365000},"page":"1674-1677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel <i>SMOC1<\/i> pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of <i>CYP21A2<\/i>\u2010related congenital adrenal hyperplasia"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7871-108X","authenticated-orcid":false,"given":"Clare","family":"Willison","sequence":"first","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijaya","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1396-0740","authenticated-orcid":false,"given":"Natalie Jane","family":"Chandler","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Hillman","sequence":"additional","affiliation":[{"name":"Institute for Women's Health University College London  London UK"},{"name":"University College London Hospitals  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tazeen","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Clinical Genetics Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,7]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Genomics England.PanelApp. Accessed 2 October 2023.https:\/\/panelapp.genomicsengland.co.uk\/"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6165"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.11.012"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.012"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23351"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002114"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T17:01:24Z","timestamp":1708621284000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":6,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/pd.6485"],"URL":"https:\/\/doi.org\/10.1002\/pd.6485","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"2023-10-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}