{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T03:40:30Z","timestamp":1792726830100,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T00:00:00Z","timestamp":1580342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior - Brasil","doi-asserted-by":"crossref","award":["Finance Code 001"],"award-info":[{"award-number":["Finance Code 001"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alteration of the <jats:italic>KPTN<\/jats:italic> gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of <jats:italic>KPTN<\/jats:italic> gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9\u2010year\u2010old boy from Kansas City. We report a case of <jats:italic>KPTN<\/jats:italic>\u2010related syndrome in a 5\u2010year\u2010old child which presented macrocephaly, muscular hypotonia, and global development delay. The neurological examination revealed below\u2010expected performance in coordination and balance tests, dyspraxia, and hand\u2010mouth synkinesia. Expressive language was characterized by phono\u2010articulatory imprecision, abundance of phonological processes and morphosyntactic immaturity. Neuropsychological assessment revealed intellectual disability with impairment of verbal and executive functions. Exome sequencing was performed. Analysis revealed a homozygous 2\u2010nucleotide duplication c.597_598dup p.(Ser200Ilefs*55) in the KPTN gene, which is predicted to lead to a translational frameshift and formation of a premature stop codon. The phenotypic profile is similar to the cases described in the other families. Presence of macrocephaly and delayed development indicate the possibility of <jats:italic>KPTN<\/jats:italic> gene variation. Genetic testing should be carried out at an early stage in order to reach a timely diagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61492","type":"journal-article","created":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T12:52:31Z","timestamp":1580388751000},"page":"762-767","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp><i>KPTN<\/i><\/scp> gene homozygous variant\u2010related syndrome in the northeast of Brazil: A case report"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1148-7806","authenticated-orcid":false,"given":"Pedro H.","family":"Lucena","sequence":"first","affiliation":[{"name":"Departamento de Medicina Escola Bahiana de Medicina e Sa\u00fade P\u00fablica  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Armani\u2010Franceschi","sequence":"additional","affiliation":[{"name":"Departamento de Neuroci\u00eancias e Sa\u00fade Mental, Faculdade de Medicina da Bahia Universidade Federal da Bahia  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Cec\u00edlia","family":"Bispo\u2010Torres","sequence":"additional","affiliation":[{"name":"Departamento de Neuroci\u00eancias e Sa\u00fade Mental, Faculdade de Medicina da Bahia Universidade Federal da Bahia  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6714-2658","authenticated-orcid":false,"given":"Igor D.","family":"Bandeira","sequence":"additional","affiliation":[{"name":"Departamento de Neuroci\u00eancias e Sa\u00fade Mental, Faculdade de Medicina da Bahia Universidade Federal da Bahia  Salvador Brazil"},{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Medicina e Sa\u00fade, Faculdade de Medicina da Bahia Universidade Federal da Bahia  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana F. G.","family":"Lucena","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Escola Bahiana de Medicina e Sa\u00fade P\u00fablica  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Maldonado","sequence":"additional","affiliation":[{"name":"Le Studium Loire Valley Institute for Advanced Studies  Orleans France"},{"name":"UMR 1253, iBrain Universit\u00e9 de Tours, Inserm  Tours France"},{"name":"CHRU de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielza F.","family":"Veiga","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Professor Edgard Santos Universidade Federal da Bahia  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Miguel","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Professor Edgard Santos Universidade Federal da Bahia  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Lucena","sequence":"additional","affiliation":[{"name":"Departamento de Neuroci\u00eancias e Sa\u00fade Mental, Faculdade de Medicina da Bahia Universidade Federal da Bahia  Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36746"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.001"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0171-9335(99)80013-2"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.2000.6430189.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00482-0"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2010.08.013"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2015.2692"},{"key":"e_1_2_9_9_1","first-page":"1","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss\u2010of\u2010function intolerance across human protein\u2010coding genes","volume":"531210","author":"Karczewski K. 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