{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:04:57Z","timestamp":1778717097052,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,2]],"date-time":"2019-10-02T00:00:00Z","timestamp":1569974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly, and dysmorphisms. BCNS is mainly caused by mutations in PTCH1<\/jats:italic>, an onco\u2010suppressor gene that maps at 9q22.3 region. A disease related to BCNS is the 9q22.3 microdeletion syndrome. This condition has an overlapping clinical phenotype with the BCNS, but it can present in addition: metopic craniosynostosis, overgrowth, obstructive hydrocephalus, developmental delay, intellectual disability, and seizures. This syndrome is caused by the deletion of a genomic region containing the PTCH1<\/jats:italic> and the FANCC<\/jats:italic>.<\/jats:p><\/jats:sec>Methods and Results<\/jats:title>We report the case of an 11\u2010year\u2010old girl that came to our attention for overgrowth, dysmorphic features of the face, and craniosynostosis, but with a normal intellectual and motor development. At first we performed an array\u2010comparative genomic hybridization (aCGH) analysis. The analysis showed no copy number changes. Then, we performed the analysis of the PTCH1<\/jats:italic> by next\u2010generation sequencing. This analysis showed a heterozygous frameshift mutation.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>This is the first case with a PTCH1<\/jats:italic> point mutation with a 9q22.3 microdeletion syndrome phenotype. This finding may strengthen the importance of the role of the PTCH1<\/jats:italic>, especially regarding the metopic craniosynostosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.987","type":"journal-article","created":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T03:15:10Z","timestamp":1570072510000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Unexpected phenotype in a frameshift mutation of PTCH1<\/i>"],"prefix":"10.1002","volume":"8","author":[{"given":"Benedetta","family":"Beltrami","sequence":"first","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Prada","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Tolva","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulietta","family":"Scuvera","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosamaria","family":"Silipigni","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Graziani","sequence":"additional","affiliation":[{"name":"Department of Human Pathology Cytogenetic and Molecular Pathology ASST Santi Paolo e Carlo Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetano","family":"Bulfamante","sequence":"additional","affiliation":[{"name":"Department of Human Pathology Cytogenetic and Molecular Pathology ASST Santi Paolo e Carlo Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Department of Health Sciences Medical Genetics Universit\u00e0 degli Studi di Milano Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Marchisio","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-8514","authenticated-orcid":false,"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104669"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34216"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37013"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.380"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkPediatriArs.2017.2992"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.5114\/ada.2017.69323"}],"container-title":["Molecular Genetics & Genomic 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