Clinical and Molecular Study of a Gorlin Syndrome Type 1 Case.

Christos Yapijakis, Nickolas Ziakas, Iphigenia Gintoni, Ioannis Papoulidis, George Vilos, George P Chrousos

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Article in Advances in experimental medicine and biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Christos YapijakisUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr.

Nickolas ZiakasUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.

Iphigenia GintoniUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.

Ioannis PapoulidisAccess To Genome, Thessaloniki, Greece.

George VilosPlastic Reconstructive and Maxillofacial Surgery Clinic, Metropolitan General Hospital, Athens, Greece.

George P ChrousosUniversity Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionGorlin syndrome (GS) or basal cell nevus syndrome type 1 (BCNS1) is a rare genetic disease belonging to the spectrum of genodermatoses. Here, we present a case with BCNS1 that was caused by haploinsufficiency of PTCH1 gene, which is associated with BCNS1.

methodsA diagnosis for BCNS1 was clinically set for a 15-year-old female patient who presented with four nevoid skin lesions, four radiolucent osteolytic lesions of the jaws, macrocephaly, unilateral congenital cataracts, strabismus, hypertelorism, and calcification of the falx cerebri. The patient's parents bore no clinical findings indicative of the syndrome.

resultsWhole exome sequencing and array comparative genomic hybridization revealed a heterozygous 2.5 million base pair deletion in the long arm of chromosome 9 (9q22.32q22.33), which encompasses PTCH1 gene among others.

conclusionThe suggested clinical diagnosis for Gorlin syndrome type 1 was confirmed by genetic analysis. Loss-of-function mutations in PTCH1 gene, including large deletions, are known to promote the formation of neoplasms and craniomaxillofacial phenotype observed in BCNS1 by relieving the inhibition of the sonic hedgehog pathway, which is implicated in cell proliferation.

Indexed as

Basal Cell Nevus SyndromePatched-1 ReceptorAdolescentChromosomes, Human, Pair 9Comparative Genomic HybridizationExome SequencingFemaleHaploinsufficiencyHumansPatched-1 ReceptorPTCH1 protein, humanBasal cell carcinomaBasal cell nevus syndromeCraniomaxillofacial syndromeGenodermatosisGorlin-Goltz syndromeNevoid basal cell carcinoma syndromePTCH1 protein

Identifiers

PMID41273553

DOI10.1016/j.diff.2023.07.002

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