Clinical and genetic features of patients with Gorlin-Goltz syndrome

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This is a clinical and genetic dataset of 28 patients with Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome), carrying germline mutations in PTCH1 (24 cases) or SUFU (4 cases). The patients range in age from 0 to 49 years, with a predominance of children and young adults, and include 13 females, 15 males. The dataset documents malignant tumors (most commonly basal cell carcinoma, followed by medulloblastoma, embryonal rhabdomyosarcoma, and neuroblastoma) and benign tumors (most commonly odontogenic keratocyst, ovarian fibroma, and others). Mutation types include missense, nonsense, stop-gain, frameshift, and splice-site variants. ACMG pathogenicity classifications range from VUS to Pathogenic, with most variants classified as Likely Pathogenic or Pathogenic. Segregation analysis shows frequent de novo events alongside maternal and paternal inheritance. The dataset is designed for genotype-phenotype correlation studies in Gorlin-Goltz syndrome.

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