{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T02:37:58Z","timestamp":1784774278796,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,28]],"date-time":"2018-10-28T00:00:00Z","timestamp":1540684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["301339\/2008\u20109"],"award-info":[{"award-number":["301339\/2008\u20109"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/02162\u20108"],"award-info":[{"award-number":["2013\/02162\u20108"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>\n                    Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor\u20101 (WT1) gene is involved in early gonadal development in both sexes. Classically,\n                    <jats:italic>WT1<\/jats:italic>\n                    deleterious variants are associated with 46,XY disorders of sex development (DSD) because of gonadal dysgenesis. We report a novel frameshift\n                    <jats:italic>WT1<\/jats:italic>\n                    variant identified in an SRY\u2010negative 46,XX testicular DSD girl born with atypical genitalia. Target massively parallel sequencing involving DSD\u2010related genes identified a novel heterozygous\n                    <jats:italic>WT1<\/jats:italic>\n                    c.1453_1456del; p.Arg485Glyfs*14 variant located in the fourth zinc finger of the protein which is absent in the population databases. Segregation analysis and microsatellite analysis confirmed the\n                    <jats:italic>de novo<\/jats:italic>\n                    status of the variant that is predicted to be deleterious by\n                    <jats:italic>in silico<\/jats:italic>\n                    tools and to increase WT1 target activation in crystallographic model. This novel and predicted activating frameshift\n                    <jats:italic>WT1<\/jats:italic>\n                    variant leading to the 46,XX testicular DSD phenotype includes the fourth zinc\u2010finger DNA\u2010binding domain defects in the genetic aetiology of 46,XX DSD.\n                  <\/jats:p>","DOI":"10.1111\/cge.13459","type":"journal-article","created":{"date-parts":[[2018,10,7]],"date-time":"2018-10-07T22:38:13Z","timestamp":1538951893000},"page":"172-176","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor\u20101 (\n                    <i>WT1<\/i>\n                    ) pathogenic variant"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1072-7903","authenticated-orcid":false,"given":"Nathalia L.","family":"Gomes","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila C.P.","family":"de Paula","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual (PADS), Unidade de Desordens do Desenvolvimento Sexual Brazil, UFRGS  Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana M.","family":"Silva","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thatiana E.","family":"Silva","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio M.","family":"Ler\u00e1rio","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan  Ann Arbor Michigan"},{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala (SELA) Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian Y.","family":"Nishi","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"},{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala (SELA) Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5461-0301","authenticated-orcid":false,"given":"Rafael L.","family":"Batista","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A. D.","family":"Faria J\u00fanior","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Moraes","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine M.F.","family":"Costa","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana P.","family":"Hemesath","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual (PADS), Unidade de Desordens do Desenvolvimento Sexual Brazil, UFRGS  Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme","family":"Guaragna\u2010Filho","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual (PADS), Unidade de Desordens do Desenvolvimento Sexual Brazil, UFRGS  Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falio C.L.","family":"Leite","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual (PADS), Unidade de Desordens do Desenvolvimento Sexual Brazil, UFRGS  Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarissa G.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual (PADS), Unidade de Desordens do Desenvolvimento Sexual Brazil, UFRGS  Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorahia","family":"Domenice","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42 Hospital das Cl\u00ednicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de S\u00e3o Paulo  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