{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T08:11:24Z","timestamp":1769242284750,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,5,31]],"date-time":"2015-05-31T00:00:00Z","timestamp":1433030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour and Welfare of Japan"},{"name":"the Takeda Science Foundation; the Japan Science and Technology Agency"},{"DOI":"10.13039\/501100001700","name":"the Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Generalized hypertrichosis is a feature of several genetic disorders, and the nosology of these entities is still provisional. Recent studies have implicated chromosome 17q24.2\u2013q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. Here, we report on a 5\u2010year\u2010old Egyptian girl born to consanguineous parents. The girl presented with CGHT and gingival hyperplasia for whom we performed detailed clinical, pathological, and molecular studies. The girl had coarse facies characterized by bilateral epicanthic folds, thick and abundant eyelashes, a broad nose, full cheeks, and lips that constituted the distinctive facial features for this syndrome. Biopsy of the gingiva showed epithelial marked acanthosis and hyperkeratosis with hyperplastic thick collagen bundles and dense fibrosis in the underlying tissues. Array analysis indicated a 17q24.2\u2013q24.3 chromosomal microdeletion. We validated this microdeletion by real\u2010time quantitative PCR and confirmed a perfect co\u2010segregation of the disease phenotype within the family. In summary, this study indicates that 17q24.2\u2013q24.3 microdeletion caused CGHT with gingival hyperplasia and distinctive facies, which should be differentiated from the autosomal recessive type that lacks the distinctive facies. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37185","type":"journal-article","created":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T05:16:28Z","timestamp":1433135788000},"page":"2418-2424","source":"Crossref","is-referenced-by-count":8,"title":["De Novo 17q24.2\u2013q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features"],"prefix":"10.1002","volume":"167","author":[{"given":"Hanan H.","family":"Afifi","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoko","family":"Fukai","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina A.","family":"Gamal el Din","sequence":"additional","affiliation":[{"name":"Pathology Department Medical Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha M.","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ola M.","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal M.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarek H.","family":"El\u2010Badry","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angie M. S.","family":"Tosson","sequence":"additional","affiliation":[{"name":"Pediatric Department Faculty of Medicine Cairo University Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,31]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1111\/j.1469-8749.1989.tb04033.x","article-title":"Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis","volume":"1","author":"Anavi Y","year":"1989","journal-title":"Dev Med Child Neurol"},{"key":"e_1_2_5_3_1","first-page":"173","volume-title":"Theory and Practice of Histological Techniques, Churchilland Livingstone","author":"Bancroft JD","year":"2002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470213"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10883"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004333"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32832dc393"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003002"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-202"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M701609200"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)21197-6"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33216"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.018"},{"key":"e_1_2_5_14_1","volume-title":"Wechsler Preschool and Primary Scale of Intelligence \u2013 Revised","author":"Wechsler D","year":"1989"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2003.100"}],"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.37185","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37185","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37185","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,9]],"date-time":"2024-06-09T08:40:44Z","timestamp":1717922444000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,31]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1002\/ajmg.a.37185"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37185","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,31]]}}}