Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment

Abstract

The clinical features in our cohort were congruent with those previously described in Australia. The QoL is adversely correlated with increased BCC burden.

The relevance of a suppressor of fused (SUFU) mutation in the diagnosis and treatment of Gorlin syndrome

“…Key differences in the presentation of GS as a result of SUFU versus PTCH1 mutations are presented in Table I . 8 Prominent among these is the increased incidence of medulloblastoma in patients with SUFU mutation. 6 Medulloblastomas typically develop in GS patients between 21 and 28 months of age, however, may develop sooner as seen in our patient.…”

“…Patients that meet 2 major criteria or 1 major criterion and 2 minor criteria fulfill diagnostic requirements for GS. 2 , 5 , 6 , 8 …”

Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome

“…NBCCS, also known as Gorlin syndrome, is characterized by lamellar or early calcification of the falx, jaw keratocysts, palmar and/or plantar pits, and multiple and/or early-onset basal cell carcinomas [Gorlin, 2004;Bree et al, 2011;Huq et al, 2017;Evans and Farndon, 2018]. NBCCS is most often inherited from an affected parent, though approximately 20-30% of the cases are de novo [Evans et al, 2010;Evans and Farndon, 2018].…”

“…Approximately 3% of individuals with NBCCS will develop a cardiac fibroma. NBCCS is also characterized by lamellar or early calcification of the falx, jaw keratocysts, palmar and/or plantar pits, and multiple and/or early-onset basal cell carcinomas [Gorlin, 2004;Bree et al, 2011;Huq et al, 2017;Evans and Farndon, 2018]. Characteristic facial features of NBCCS include macrocephaly, frontal bossing, and hypertelorism.…”

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

“…The PTCH2 gene, a close homolog of PTCH1 , has also been associated with GS [5]. As some large studies did not find any significant difference between individuals with germline PTCH1 or SUFU variants, regarding age of onset of BCC or total number of BCCs, it has been debated whether there is a genotype-phenotype correlation regarding BCCs in GS [4, 6, 7]. However, these studies only included few individuals with pathogenic variants in the SUFU gene.…”