{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T23:12:34Z","timestamp":1784243554676,"version":"3.55.0"},"reference-count":25,"publisher":"Georg Thieme Verlag KG","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Gorlin syndrome (GS, MIM #109400) is a cancer predisposition syndrome\n                        characterized by macrocephaly, odontogenic keratocysts, calcification of the\n                        falx cerebri, basal cell carcinoma, and medulloblastoma. It is caused by\n                        pathogenic variants in the PTCH1 and SUFU genes.<\/jats:p>\n                  <jats:p>We evaluated the clinical and molecular features of 11 patients with GS using\n                        single-gene testing, multigene panel analysis, and clinical exome\n                        sequencing.<\/jats:p>\n                  <jats:p>All patients exhibited characteristic craniofacial features. Macrocephaly was\n                        observed in 10 patients (90.9%) and odontogenic keratocysts in nine patients\n                        (81.8%). Palmar pits and falx cerebri calcification were observed in eight\n                        patients (72.7%). Basal cell carcinoma occurred in four patients (36.3%),\n                        and medulloblastoma in two (18.2%). GS was clinically suspected based on the\n                        observed clinical and radiological findings in all patients. Seven distinct\n                        heterozygous pathogenic PTCH1 variants were identified, four of which\n                        were novel. One patient had a dual diagnosis of L-2-hydroxyglutaric\n                        aciduria.<\/jats:p>\n                  <jats:p>These findings underscore the marked phenotypic variability of PTCH1-related\n                        GS. Due to age-dependent clinical manifestations, patients require regular\n                        long-term surveillance and comprehensive clinical assessment.<\/jats:p>\n                  <jats:p>Molecular confirmation of the diagnosis is important for the provision of\n                        genetic counselling, consideration of preimplantation genetic diagnosis, and\n                        appropriate patient follow-up and treatment planning.<\/jats:p>","DOI":"10.1055\/a-2896-4106","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T22:50:47Z","timestamp":1784242247000},"source":"Crossref","is-referenced-by-count":0,"title":["PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular\n                    Spectrum in a Cohort of 11 Patients"],"prefix":"10.1055","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3814-564X","authenticated-orcid":false,"given":"Ay\u015fe Burcu","family":"Do\u011fan Ar\u0131","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Ankara Bilkent City Children\u2019s\n                    Hospital, Ankara, Turkey","place":["\u00c7ankaya"],"department":["Department of Pediatric Genetics"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00fc\u015fra","family":"\u00c7avdarl\u0131","sequence":"additional","affiliation":[{"name":"Ankara Bilkent City Hospital, Ankara, Turkey","place":["\u00c7ankaya"],"department":["Department of Medical Genetics"]},{"name":"Ankara Yildirim Beyazit University, Turkey","place":["Ankara"],"department":["Department of Medical Genetics"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclay","family":"G\u00fcle\u00e7 Ceylan","sequence":"additional","affiliation":[{"name":"Ankara Bilkent City Hospital, Ankara, Turkey","place":["\u00c7ankaya"],"department":["Department of Medical Genetics"]},{"name":"Ankara Yildirim Beyazit University, Turkey","place":["Ankara"],"department":["Department of Medical Genetics"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma","family":"\u00c7akmakc\u0131","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Ankara Bilkent City Children\u2019s\n                    Hospital, Ankara, Turkey","place":["\u00c7ankaya"],"department":["Department of Pediatrics Hematology-Oncology"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Ankara Bilkent City Children\u2019s\n                    Hospital, Ankara, Turkey","place":["\u00c7ankaya"],"department":["Department of Pediatric Genetics"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,7,16]]},"reference":[{"issue":"08","key":"ref2","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1136\/JMEDGENET-2017-104669","article-title":"First evidence of genotype-phenotype correlations in Gorlin syndrome","volume":"54","author":"D G Evans","year":"2017","journal-title":"J Med Genet"},{"issue":"02","key":"ref3","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1093\/CED\/LLAE210","article-title":"Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic\n                    criteria depends on the age of the patients","volume":"50","author":"A Hercent","year":"2025","journal-title":"Clin Exp Dermatol"},{"issue":"09","key":"ref4","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1111\/IJD.15884","article-title":"Basal cell nevus syndrome: an update on clinical findings","volume":"61","author":"L T Fern\u00e1ndez","year":"2022","journal-title":"Int J Dermatol"},{"issue":"20","key":"ref5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/IJMS21207559","article-title":"Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular\n                    Biological Research","volume":"21","author":"S Onodera","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"02","key":"ref6","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/AJMG.A.33139","article-title":"Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK\n                    family genetic register service","volume":"152A","author":"D G Evans","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref7","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1034\/J.1399-0004.1999.550106.X","article-title":"Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected\n                    individuals","volume":"55","author":"L Lo Muzio","year":"1999","journal-title":"Clin Genet"},{"issue":"05","key":"ref8","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1016\/j.gendis.2019.12.010","article-title":"Identification of rare PTCH1 nonsense variant causing orofacial cleft in a\n                    Chinese family and an up-to-date genotype-phenotype analysis","volume":"8","author":"W Zhong","year":"2021","journal-title":"Genes Dis"},{"issue":"6402","key":"ref9","doi-asserted-by":"publisher","first-page":"eaas8935","DOI":"10.1126\/SCIENCE.AAS8935","article-title":"Structural basis for the recognition of Sonic Hedgehog by human Patched1","volume":"361","author":"X Gong","year":"2018","journal-title":"Science"},{"issue":"10","key":"ref10","doi-asserted-by":"publisher","first-page":"e77305","DOI":"10.1371\/JOURNAL.PONE.0077305","article-title":"PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese\n                    patients and a systematic review","volume":"8","author":"Y Y Guo","year":"2013","journal-title":"PLoS One"},{"issue":"09","key":"ref12","doi-asserted-by":"publisher","first-page":"2091","DOI":"10.1002\/AJMG.A.34128","article-title":"Consensus statement from the first international colloquium on basal cell nevus\n                    syndrome (BCNS)","volume":"155A","author":"A F Bree","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"05","key":"ref13","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint\n                    consensus recommendation of the American College of Medical Genetics and\n                    Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"02","key":"ref14","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/BJD.20700","article-title":"A guideline for the clinical management of basal cell naevus syndrome\n                    (Gorlin-Goltz syndrome)","volume":"186","author":"BJ A Verkouteren","year":"2022","journal-title":"Br J Dermatol"},{"issue":"02","key":"ref15","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/S12105-016-0706-9","article-title":"Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)","volume":"10","author":"S C Bresler","year":"2016","journal-title":"Head Neck Pathol"},{"issue":"09","key":"ref16","doi-asserted-by":"publisher","first-page":"e45656","DOI":"10.7759\/CUREUS.45656","article-title":"Gorlin-Goltz syndrome: A case series","volume":"15","author":"A Salahudheen","year":"2023","journal-title":"Cureus"},{"issue":"03","key":"ref17","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1159\/000535407","article-title":"Further expanding the mutational spectrum of gorlin syndrome in three unrelated\n                    families","volume":"15","author":"A Kolkiran","year":"2024","journal-title":"Mol Syndromol"},{"issue":"02","key":"ref18","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/j.jaad.2019.07.072","article-title":"Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch\n                    multicenter retrospective cohort study","volume":"83","author":"B Cosgun","year":"2020","journal-title":"J Am Acad Dermatol"},{"issue":"27","key":"ref19","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1093\/bjd\/ljaf413","article-title":"Clinical and genetic findings in 103 individuals in Norway with basal cell\n                    naevus syndrome","volume":"194","author":"K H Brandtz\u00e6g","year":"2026","journal-title":"Br J Dermatol"},{"issue":"04","key":"ref20","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1055\/A-2096-3536","article-title":"Gorlin-Goltz syndrome: A case report and literature review with PTCH1 gene\n                    sequencing","volume":"50","author":"H S Kim","year":"2023","journal-title":"Arch Plast Surg"},{"issue":"01","key":"ref21","doi-asserted-by":"publisher","first-page":"e56","DOI":"10.4317\/MEDORAL.23185","article-title":"The recurrence of odontogenic keratocysts in pediatric patients is associated\n                    with clinical findings of Gorlin-Goltz Syndrome","volume":"25","author":"L P Silva","year":"2020","journal-title":"Med Oral Patol Oral Cir Bucal"},{"issue":"01","key":"ref22","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/S13256-025-05036-1","article-title":"Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report","volume":"19","author":"N Abdul Rahman","year":"2025","journal-title":"J Med Case Rep"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"113254","DOI":"10.1016\/J.EJCA.2023.113254","article-title":"European consensus-based interdisciplinary guideline for diagnosis and treatment\n                    of basal cell carcinoma-update 2023","volume":"192","author":"K Peris","year":"2023","journal-title":"Eur J Cancer"},{"issue":"02","key":"ref24","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/j.jaad.2025.10.076","article-title":"Clinical practice guidelines for the management of basal cell carcinoma in\n                    Gorlin syndrome","volume":"94","author":"B A Cahn","year":"2025","journal-title":"J Am Acad Dermatol"},{"issue":"19","key":"ref25","doi-asserted-by":"publisher","first-page":"2119","DOI":"10.1200\/JCO.21.02385","article-title":"Gorlin syndrome: Assessing genotype-phenotype correlations and analysis of early\n                    clinical characteristics as risk factors for disease severity","volume":"40","author":"N J Betancourt","year":"2022","journal-title":"J Clin Oncol"},{"issue":"01","key":"ref26","doi-asserted-by":"publisher","first-page":"21","DOI":"10.2302\/kjm.2023-0010-ir","article-title":"Gorlin syndrome and cowden syndrome","volume":"74","author":"H Goto","year":"2023","journal-title":"Keio J Med"},{"issue":"21","key":"ref27","doi-asserted-by":"publisher","first-page":"1985","DOI":"10.1056\/NEJMOA2314761","article-title":"Genome sequencing for diagnosing rare diseases","volume":"390","author":"M H Wojcik","year":"2024","journal-title":"N Engl J Med"}],"container-title":["Klinische 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