{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T17:04:27Z","timestamp":1784307867816,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"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":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>GNB2<\/jats:italic>\n                    have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features. Thus far, all reported patients with GNB2\u2010related disorder have had\n                    <jats:italic>de novo<\/jats:italic>\n                    missense variants. Many of these single nucleotide substitutions have been recurrent. Exome sequencing identified a heterozygous\n                    <jats:italic>GNB2<\/jats:italic>\n                    variant, c.217G&gt;A, predicting p.(Ala73Thr) (NM_005273.3) in a family, including two brothers with developmental delays and their more mildly affected mother. Their mother had a history of very mild developmental delays during childhood, macrocephaly, and subtle facial features consistent with GNB2\u2010related disorder. Consistent with what was observed in this family, this recurrent variant has previously been reported in association with a milder neurocognitive phenotype. However, the findings in this family raise the possibility of an expanded clinical spectrum to include a possible association with overgrowth\/macrocephaly and pilocytic astrocytoma. This family also highlights the variable expressivity that can be seen in GNB2\u2010related disorder.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72913","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T04:16:12Z","timestamp":1781756172000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial p.(\n                    <scp>Ala73Thr<\/scp>\n                    ) Variant in\n                    <i>GNB2<\/i>\n                    Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1221-9777","authenticated-orcid":false,"given":"Megan","family":"Glassford","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Jennings","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.17.6122"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8121567"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103804"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107462"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.116.310112"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a006253"},{"key":"e_1_2_12_8_1","first-page":"1993","volume-title":"GeneReviews","author":"Mullegama S. V.","year":"2016"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70121"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra2116344"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.07.002"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3751"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010023\u201006045\u20100"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab144"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.122.038585"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72913","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.72913","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72913","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T16:20:18Z","timestamp":1784305218000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.72913"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ccr3.72913"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.72913","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"2025-12-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e72913"}}