{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T11:57:25Z","timestamp":1764331045350,"version":"3.40.5"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T00:00:00Z","timestamp":1595030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Greenwood Genetic Center Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and Associates in 1984. The affected males with Schimke X\u2010linked intellectual disability (XLID) syndrome (OMIM# 312840) had a similar facial appearance with deep\u2010set eyes, downslanting palpebral fissures, hypotelorism, narrow nose and alae nasi, cupped ears and spacing of the teeth. Two mothers had mild hearing loss but no other manifestations of the disorder. The authors considered the disorder to be distinctive and likely X\u2010linked. Whole genome sequencing in the single affected male available and the three carrier females from one of the families with Schimke XLID syndrome identified a 2 bp deletion in the <jats:italic>BCAP31<\/jats:italic> gene. During the past decade, pathogenic alterations of the <jats:italic>BCAP31<\/jats:italic> gene have been associated with deafness, dystonia, and central hypomyelination, an XLID condition given the eponym DDCH syndrome. A comparison of clinical findings in Schimke XLID syndrome and DDCH syndrome shows them to be the same clinical entity. The BCAP31 protein functions in endoplasmic reticulum\u2010associated degradation to promote ubiquitination and destruction of misfolded proteins.<\/jats:p>","DOI":"10.1002\/ajmg.a.61755","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T10:23:14Z","timestamp":1595067794000},"page":"2168-2174","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Schimke <scp>XLID<\/scp> syndrome results from a deletion in <scp><i>BCAP31<\/i><\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6788-1151","authenticated-orcid":false,"given":"Raymond J.","family":"Louie","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra L.","family":"Collins","sequence":"additional","affiliation":[{"name":"University of Kansas Cancer Center  Westwood Kansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Friez","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy","family":"Skinner","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7770-1943","authenticated-orcid":false,"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1806-6345","authenticated-orcid":false,"given":"Roger E.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38127"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.139.6.1397"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0123-4"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.023"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36661"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/340849"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.7150\/thno.35383"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2012.01348.x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.1765"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38144"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38710"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep44809"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.02.018"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103732"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170125"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1129"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1074-7613(01)00102-9"},{"volume-title":"Atlas of X\u2010linked intellectual disability syndromes","year":"2012","author":"Stevenson R. 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