{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:50:20Z","timestamp":1791561020006,"version":"4.3.4"},"reference-count":27,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,5,24]],"date-time":"2026-05-24T00:00:00Z","timestamp":1779580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,24]],"date-time":"2026-05-24T00:00:00Z","timestamp":1779580800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Autosomal dominant\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    \u2010related genitourinary and\/or brain malformation syndrome is a recently described multisystem disorder caused by loss\u2010of\u2010function variants in the protein phosphatase 1 regulatory subunit 12a (\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    ) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary anomalies, including differences of sexual development. Of these cases, four probands had anomalies involving both organ systems. Here, we report a 12\u2010year\u2010old individual with global developmental delay, semi\u2010lobar holoprosencephaly, microcephaly, spastic quadriplegia, bilateral polydactyly, and ambiguous genitalia. The proband was found to have a 46,XY chromosome complement. Trio genome sequencing with sequential RNA sequencing revealed a novel intronic variant that generates an out\u2010of\u2010frame transcript with a premature stop codon, supporting a loss\u2010of\u2010function mechanism. We review previously reported cases of PPP1R12A\u2010related disease and summarize genotypes and frequency of reported clinical features, further illustrating the variable expressivity associated with this condition. Our findings broaden the phenotypic and genotypic spectrum of PPP1R12A and reinforce the role of transcript\u2010level analysis in the evaluation of suspected splicing variants.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70212","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T03:55:59Z","timestamp":1779681359000},"page":"2519-2524","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanded Phenotype Associated With an Intronic\n                    <i>PPP1R12A<\/i>\n                    Variant: A Case Report and Literature Review"],"prefix":"10.1002","volume":"200","author":[{"given":"Emily M.","family":"Bland","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber Nakar","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric C.","family":"Kao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaonan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Weisz\u2010Hubshman","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston 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