{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T03:32:34Z","timestamp":1770780754948,"version":"3.50.0"},"reference-count":40,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Surg."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold>GLI-Kruppel family member 3 (GLI3), a zinc finger transcription factor of the sonic hedgehog pathway, is essential for organ development. Mutations in<jats:italic>GLI3<\/jats:italic>cause several congenital conditions, including Pallister-Hall syndrome (PHS), which is characterized by polydactyly and hypothalamic hamartoma. Most patients are diagnosed soon after birth, and surgical removal of hypothalamic hamartoma in the very young is rarely performed because of associated risks.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold>A 7-month-old boy with PHS features, including a suprasellar lesion, bifid epiglottis, tracheal diverticulum, laryngomalacia, left-handed polydactyly and syndactyly, and omental hernia was referred to our service. His suprasellar lesion was partially removed, and whole-exome sequencing was applied to the resected tumor, his peripheral blood, and blood from his parents. Histopathology confirmed the diagnosis of hypothalamic hamartoma, and molecular profiling revealed a likely pathogenic<jats:italic>de novo<\/jats:italic>variant, c.2331C&amp;gt;G (p. H777Q), in<jats:italic>GLI3<\/jats:italic>. Magnetic resonance imaging follow-up 1 year later showed some residual tumor, and the patient experienced normal development post operation.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold>We presented a case of PHS that carries a novel<jats:italic>GLI3<\/jats:italic>variant. Hypothalamic hamartoma showed a distinct genetic landscape from germline DNA. These data offer insights into the underlying etiology of hypothalamic hamartoma development in patients with PHS.<\/jats:p>","DOI":"10.3389\/fsurg.2021.734757","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T06:55:34Z","timestamp":1632293734000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3"],"prefix":"10.3389","volume":"8","author":[{"given":"Yue","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xie-Pan","family":"Jing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shang-Yu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-Dong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling-Li","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang-Hui","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huang-Yi","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong-Ding","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Song","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1002\/ajmg.c.31419","article-title":"Pallister-Hall syndrome has gone the way of modern medical genetics","author":"Hall","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet."},{"key":"B2","unstructured":"BieseckerLG Pallister-Hall Syndrome2000"},{"key":"B3","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/ng0397-266","article-title":"GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome","volume":"15","author":"Kang","year":"1997","journal-title":"Nat Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.gene.2016.01.003","article-title":"The early history of Pallister-Hall syndrome-Buried treasure of a sort","volume":"589","author":"Hall","year":"2016","journal-title":"Gene."},{"key":"B5","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1159\/000120920","article-title":"Hypothalamic hamartoma and the Pallister-Hall syndrome","volume":"22","author":"Squires","year":"1995","journal-title":"Pediatr Neurosurg."},{"key":"B6","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s00439-002-0868-2","article-title":"Gene symbol: GLI3. 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