{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:50:50Z","timestamp":1787590250659,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T00:00:00Z","timestamp":1695686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["33458"],"award-info":[{"award-number":["33458"]}],"id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Abnormal hyperpolarization of the <jats:italic>KCNK4<\/jats:italic> gene, expressed in the nervous system, brain, and periodontal ligament fibroblasts, leads to impaired neurotransmitter sensitivity, cardiac arrhythmias, and endocrine dysfunction, as well as, progressive cell proliferation. De novo gain of function variants in the <jats:italic>KCNK4<\/jats:italic> gene were reported to cause a recognizable syndrome characterized by facial dysmorphism, hypertrichosis, epilepsy, intellectual\/developmental delay, and gingival overgrowth (FHEIG, OMIM# 618381). FHEIG is extremely rare with only three reported cases in the literature. Herein, we describe the first inherited <jats:italic>KCNK4<\/jats:italic> variant (c.730G&gt;C, p.Ala244Pro) in an Egyptian boy and his mother. Variable phenotypic expressivity was noted as the patient presented with the full\u2010blown picture of the syndrome while the mother presented only with hypertrichosis and gingival overgrowth without any neurological manifestations. The c.730G&gt;C (p.Ala244Pro) variant was described before in a single patient and when comparing the phenotype with our patient, a phenotype\u2013genotype correlation seems likely. Atrial fibrillation and joint laxity are new associated findings noted in our patient extending the clinical phenotype of the syndrome. Dental management was offered to the affected boy and a dramatic improvement was noted as the patient regained his smile, restored the mastication function, and resumed his psychological stability.<\/jats:p>","DOI":"10.1002\/ajmg.a.63415","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T07:42:31Z","timestamp":1695714151000},"page":"39-45","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A recurrent <scp><i>KCNK4<\/i><\/scp> variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: <scp>Variable<\/scp> phenotypic expressivity and insights on patients' dental management"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1498-6619","authenticated-orcid":false,"given":"Rasha M.","family":"Elhossini","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8028-8566","authenticated-orcid":false,"given":"Inas M.","family":"Sayed","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usama Saad","family":"Hellal","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah A. M.","family":"Mahmoud","sequence":"additional","affiliation":[{"name":"Oral &amp; Maxillofacial Pathology Department, Faculty of Dentistry Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona S.","family":"Aglan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8902-9018","authenticated-orcid":false,"given":"Nehal F.","family":"Hassib","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"},{"name":"School of Dentistry New Giza University  Giza Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-0147","authenticated-orcid":false,"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12821"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.001"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1213808"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.25259\/IJDVL_629_20"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp.2019.12.01"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0395-1"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/339689"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3282"},{"issue":"2","key":"e_1_2_10_10_1","first-page":"48","article-title":"A short account of the bearded and hairy female","volume":"1857","author":"Laurence J. Z.","year":"1857","journal-title":"Lancet"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0014-5793(00)01388-0"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oooo.2020.08.006"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2013.0094"},{"issue":"7","key":"e_1_2_10_14_1","first-page":"210","article-title":"Heterogeneity in gingival fibromatosis","volume":"7","author":"Witkop C. J.","year":"1971","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/428423"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T07:33:51Z","timestamp":1706513631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,26]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63415","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,26]]},"assertion":[{"value":"2023-05-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}