{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:22Z","timestamp":1753869682735,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T00:00:00Z","timestamp":1591574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"St. George\u2019s University"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within the same family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome sequencing and confirmatory Sanger sequencing showed the same previously described p.Arg629Ter <jats:italic>NIPBL<\/jats:italic> variant in two half\u2010brothers affected with CdLS. Clinical evaluations were obtained in a pro bono genetics clinic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One brother had relatively mild proportionate limb shortening; the other had complete bilateral hypogenesis of the upper arm with absence of lower arm structures, terminal transverse defects, and no digit remnants. His complex lower limb presentation included long bone deficiency and a deviated left foot. The mother had intellectual disability and microcephaly but lacked facial features diagnostic of the CdLS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe a collaboration between a pediatrics team from a resource\u2010limited nation and USA\u2010based medical geneticists. Reports describing individuals of West Indian ancestry are rarely found in the medical literature. Here, we present a family of Afro\u2010Caribbean ancestry with CdLS presenting with phenotypic variability, including unusual lower limb abnormalities. The observation of this novel family adds to our knowledge of the phenotypic and molecular aspects of CdLS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1318","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T17:34:14Z","timestamp":1591637654000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro\u2010Caribbean family"],"prefix":"10.1002","volume":"8","author":[{"given":"Wayne","family":"Thompson","sequence":"first","affiliation":[{"name":"Department of Biochemistry St. George\u2019s University School of Medicine St. George's Grenada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick Z.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Biochemistry St. George\u2019s University School of Medicine St. George's Grenada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tyhiesia","family":"Donald","sequence":"additional","affiliation":[{"name":"Pediatrics Ward Grenada General Hospital St. George's Grenada"},{"name":"Clinical Teaching Unit St. George\u2019s University School of Medicine St. George's Grenada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly","family":"Nelson","sequence":"additional","affiliation":[{"name":"Pediatrics Ward Grenada General Hospital St. George's Grenada"},{"name":"Clinical Teaching Unit St. George\u2019s University School of Medicine St. George's Grenada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth J.","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children\u2019s Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2265-6727","authenticated-orcid":false,"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children\u2019s Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children\u2019s Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maricela","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1400-8519","authenticated-orcid":false,"given":"Sarah H.","family":"Elsea","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice L.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6007-8518","authenticated-orcid":false,"given":"John C.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Health Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9251-2614","authenticated-orcid":false,"given":"Andrew K.","family":"Sobering","sequence":"additional","affiliation":[{"name":"Department of Biochemistry St. George\u2019s University School of Medicine St. George's Grenada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11316.HDAC8"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/511888"},{"volume-title":"GeneReviews\u00ae","year":"2016","author":"Deardorff M. 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