{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T00:31:43Z","timestamp":1789518703806,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:00:00Z","timestamp":1726012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next\u2010generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss\u2010of\u2010function (LoF) variants in <jats:italic>PPP1R12A<\/jats:italic> with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and\/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in <jats:italic>PPP1R12A<\/jats:italic> was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand <jats:italic>PPP1R12A<\/jats:italic>\u2010related urogenital and\/or brain malformation syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63876","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T07:25:01Z","timestamp":1726039501000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Loss\u2010of\u2010Function Variant in <scp><i>PPP1R12A<\/i><\/scp>\u2010Related Urogenital and\/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3338-3813","authenticated-orcid":false,"given":"Silvina Noem\u00ed","family":"Contreras\u2010Capetillo","sequence":"first","affiliation":[{"name":"Hospital General Dr. Agust\u00edn O'Hor\u00e1n, Secretar\u00eda de Salud de Yucat\u00e1n  M\u00e9rida Yucatan Mexico"},{"name":"Centro de Investigaciones Regionales Dr. Hideyo Noguchi Universidad Aut\u00f3noma de Yucat\u00e1n  M\u00e9rida Yucat\u00e1n Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melania","family":"Abreu\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular y Secuenciaci\u00f3n Masiva Genos M\u00e9dica Centro Especializado en Gen\u00e9tica  Ciudad de M\u00e9xico Mexico"},{"name":"Centro M\u00e9dico ABC. Centro de C\u00e1ncer  Ciudad de M\u00e9xico Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yahir","family":"Centeno\u2010Navarrete","sequence":"additional","affiliation":[{"name":"Hospital General Dr. Agust\u00edn O'Hor\u00e1n, Secretar\u00eda de Salud de Yucat\u00e1n  M\u00e9rida Yucatan Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephany Renatta","family":"Ferro\u2010Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Dr. Ignacio Garc\u00eda T\u00e9llez  M\u00e9rida Yucat\u00e1n Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Ceballos\u2010Zapata","sequence":"additional","affiliation":[{"name":"ANAPAT, Centro de anatom\u00eda patol\u00f3gica  M\u00e9rida Yucat\u00e1n Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesiah","family":"Garc\u00eda\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Hospital Regional de Alta Especialidad de la Pen\u00ednsula de Yucat\u00e1n  M\u00e9rida Yucat\u00e1n Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,11]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Alkhunaizi E.","year":"2021"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201021\u20100910"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.007"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2223"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.12.004"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.15386\/mpr\u20102064"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13050780"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2021.08.019"}],"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.63876","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T06:02:18Z","timestamp":1734069738000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63876"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,11]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/ajmg.a.63876"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63876","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,11]]},"assertion":[{"value":"2023-11-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63876"}}