{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T23:39:07Z","timestamp":1793403547744,"version":"4.5.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T00:00:00Z","timestamp":1785196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003030","name":"Ag\u00e8ncia de Gesti\u00f3 d'Ajuts Universitaris i de Recerca","doi-asserted-by":"publisher","award":["2021-SGR-01492"],"award-info":[{"award-number":["2021-SGR-01492"]}],"id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Snijders Blok\u2013Fisher syndrome (SNIBFIS; OMIM #618604) is a rare autosomal dominant neurodevelopmental disorder caused mainly by\n                    <jats:italic>de novo<\/jats:italic>\n                    variants in\n                    <jats:italic>POU3F3<\/jats:italic>\n                    gene. Here, we report for the first time, two affected siblings harboring a truncating\n                    <jats:italic>POU3F3<\/jats:italic>\n                    variant inherited from their apparently unaffected father. Sanger sequencing across multiple tissues (blood, saliva, urine, and hair root samples) in the father together with RNA testing confirmed gonosomal mosaicism. Clinical re-evaluation of the father evidenced a previously unrecognized cognitive impairment. Conventional methods often fail to detect mosaic variants, highlighting the necessity to integrate integration of high-depth sequencing for precise risk evaluation. This work redefines the genetic architecture of SNIBFIS, emphasizing that comprehensive parental testing are indispensable for precise genetic counseling and family planning. The identification of mosaicism highlights the importance of increased clinical awareness, especially in families with more than one affected individual, and supports the use of comprehensive, high-resolution genetic testing strategies for accurate variant detection and characterization.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1892974","type":"journal-article","created":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T22:10:20Z","timestamp":1785190220000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: First case of paternal mosaicism in Snijders Blok\u2013Fisher syndrome"],"prefix":"10.3389","volume":"17","author":[{"given":"Alex","family":"Barrag\u00e1n-Mu\u00f1oz","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Trilla","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FCRB-IDIBAPS)","place":["Barcelona, Spain"]},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FCRB-IDIBAPS)","place":["Barcelona, Spain"]},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Potrony","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FCRB-IDIBAPS)","place":["Barcelona, Spain"]},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Madrigal","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FCRB-IDIBAPS)","place":["Barcelona, Spain"]},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Rodriguez-Revenga","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FCRB-IDIBAPS)","place":["Barcelona, Spain"]},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"Alvarez-Mora","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona","place":["Barcelona, Spain"]},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FCRB-IDIBAPS)","place":["Barcelona, Spain"]},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s13023-022-02213-z","article-title":"Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders","volume":"17","author":"\u00c1lvarez-Mora","year":"2022","journal-title":"Orphanet J. 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