{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T17:13:37Z","timestamp":1774977217528,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,14]],"date-time":"2012-09-14T00:00:00Z","timestamp":1347580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 16\u2010year\u2010old female originally diagnosed with Marden\u2010Walker syndrome due to features such as facial dysmorphism, several musculoskeletal anomalies, and atrial septal defect in addition to hypoplasia of the inferior vermis with normal\u2010sized cerebellum and absence of the septum pellucidum. However, an SNP array performed at age 15 years detected a total of 142\u2009Mb of long runs of homozygosity (ROH), and put the diagnosis in doubt. Using the Genomic Oligoarray and SNP array evaluation tool (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.ccs.miami.edu\/ROH\">http:\/\/www.ccs.miami.edu\/ROH<\/jats:ext-link>), <jats:italic>CHST14<\/jats:italic> provided a \u201chit\u201d as a gene mapping to the largest ROH region associated with a phenotype matching our patient's (if mutated). At that time, she was a cognitively intact, thin female with growth parameters below the 3rd percentile. Craniofacial features included microcephaly, midface hypoplasia, blepharophimosis, entropion, myopia, microretrognathia, and dental malocclusion. Musculoskeletal features included kyphoscoliosis, arachnodactyly, camptodactyly, and rocker\u2010bottom feet with interphalangeal contractures. Her skin displayed large ecchymoses and poorly healed atrophic scars. Sequencing of <jats:italic>CHST14<\/jats:italic> revealed a complex homozygous frameshift mutation involving a 7\u2010bp deletion and an 11\u2010bp insertion predicted to produce a truncated protein. This mutation was not seen in 100 controls of various ethnicities. Thus, our patient represents not only a novel (homozygous) mutation in <jats:italic>CHST14<\/jats:italic>, but is also the first patient with dermatan 4\u2010<jats:italic>O<\/jats:italic>\u2010sulfotransferase 1\u2010deficient Ehlers\u2010Danlos syndrome (adducted thumb\u2010clubfoot syndrome) (DD\u2010EDS ATCS) documented in the Western Hemisphere. Furthermore, our patient's central nervous system anomalies have not before been described in DD\u2010EDS (ATCS). \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35613","type":"journal-article","created":{"date-parts":[[2012,9,15]],"date-time":"2012-09-15T09:57:24Z","timestamp":1347703044000},"page":"2935-2940","source":"Crossref","is-referenced-by-count":22,"title":["Re\u2010assigned diagnosis of D4ST1\u2010deficient Ehlers\u2010Danlos syndrome (adducted thumb\u2010clubfoot syndrome) after initial diagnosis of Marden\u2010Walker syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Kevin A.","family":"Winters","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhijie","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weihong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shibo","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zineb","family":"Ammous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parul","family":"Jayakar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaas J.","family":"Wierenga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.088120"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02417.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00012"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03701.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440110"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.265"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21440"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30965"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21586"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513373200"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21355"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)43635-0"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21300"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.43.28116"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330320109"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450302"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0934-8832(89)80033-2"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34115"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2011.01.006"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwf066"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35613","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35613","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T03:24:33Z","timestamp":1694575473000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35613"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,14]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1002\/ajmg.a.35613"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35613","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,14]]}}}