{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:07:38Z","timestamp":1780466858446,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T00:00:00Z","timestamp":1570060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Research Institute of the McGill University Health Centre"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Xq26 locus has importance in human growth with multiple genes and regions playing important roles, which potentially leads to macrosomia or microsomia if disrupted. One region of Xq26.2 comprises the genes <jats:italic>GPC3<\/jats:italic> and <jats:italic>GPC4<\/jats:italic>; deletion or duplication of this region has been recently been shown to result in overgrowth, specifically Simpson\u2013Golabi\u2013Behmel syndrome. We describe a male patient with two maternally inherited Xq26 microduplications; the first was 0.8 Mb at Xq26.2 affecting only <jats:italic>GPC3<\/jats:italic> and <jats:italic>GPC4<\/jats:italic>, and the second, a distal 0.6 Mb duplication at Xq26.3 affecting seven genes. Rather than having Simpson\u2013Golabi\u2013Behmel syndrome, our patient had microcephaly and undergrowth, with development that was within normal limits at 25 months of age. This finding suggests that the molecular pathway leading to overgrowth secondary to <jats:italic>GPC3<\/jats:italic>\/<jats:italic>GPC4<\/jats:italic> haploinsufficiency can be overpowered by a disruption to the distal Xq26.3 region. Of the genes in that region, we propose that <jats:italic>SLC9A6<\/jats:italic> is the most likely to play an important role as mutations in this gene lead to Christianson syndrome, in which patients may have microcephaly and weight loss.<\/jats:p>","DOI":"10.1111\/ahg.12357","type":"journal-article","created":{"date-parts":[[2019,10,4]],"date-time":"2019-10-04T03:54:27Z","timestamp":1570161267000},"page":"201-204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3\/GPC4"],"prefix":"10.1111","volume":"84","author":[{"given":"Gaurav K.","family":"Karna","sequence":"first","affiliation":[{"name":"McGill University  Montreal PQ Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7831-4593","authenticated-orcid":false,"given":"Kenneth A.","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Montreal Children's Hospital McGill University Health Centre  Montreal PQ Canada"},{"name":"Research Institute of the McGill University Health Center  Montreal PQ Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2008-9-5-224"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38297"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.119"},{"key":"e_1_2_9_6_1","volume-title":"Gene Reviews","author":"Morrow E. 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