Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research

Abstract

Gorlin syndrome is a skeletal disorder caused by a gain of function mutation in Hedgehog (Hh) signaling. The Hh family comprises of many signaling mediators, which, through complex mechanisms, play several important roles in various stages of development. The Hh information pathway is essential for bone tissue development. It is also the major driver gene in the development of basal cell carcinoma and medulloblastoma. In this review, we first present the recent advances in Gorlin syndrome research, in particular, the signaling mediators of the Hh pathway and their functions at the genetic level. Then, we discuss the phenotypes of mutant mice and Hh signaling-related molecules in humans revealed by studies using induced pluripotent stem cells.

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

“…Cases 4, 5 and 6, 7 had a mother–daughter relationship and the same pathogenic variants. There were 3 nonsense, 2 frameshift, 1 splice site and 1 missense variant among the pathogenic sequence variants, which is in line with a recent review article demonstrating the most common variant form is frameshift, followed by nonsense variant 25 . Among these, two pathogenic variants (c.2415dup and c.2802T > A) were considered novel, and one variant (c.2422C > T) was not reported in NBCCS, but in medulloblastoma 22 .…”

Sporadic Cutaneous Keratocyst of the Scalp: A Report of an Extremely Rare Lesion

“…NBCCS is a multisystem syndrome characterized by the development of multiple basal cell carcinomas at a young age, in addition to OKCs, CKCs, other neoplastic lesions, and cutaneous and skeletal abnormalities. Although most cutaneous cysts associated with NBCCS are epidermal-type, some cases with features of CKCs have also been reported [2]. Here, we present a case of sporadic CKC that developed in the scalp without the clinical features of NBCCS.…”

Oral and Maxillo-Facial Manifestations of Systemic Diseases: An Overview

“…Gorlin syndrome, or basal cell nevus syndrome, is a hereditary disease related to the mutations (more than 100 gene mutations have been reported) of patched 1 , patched 2 and PTCH2 , and SUFU genes, characterized by systemic and diverse developmental abnormalities and neoplastic lesions [ 162 , 163 , 164 ]. Patients may variably display multiple basal cell carcinomas (also of the head and neck skin), medulloblastomas, frontal ridges, coarse facial features, facial milia, skeletal abnormalities (bisecting ribs and wedge-shaped vertebrae), intellectual disability, heart and ovarian fibromas, palmar and/or plantar pits hyperkeratosis [ 163 , 164 ].…”