Lab Med Online.  2020 Apr;10(2):175-178. 10.3343/lmo.2020.10.2.175.

The First Korean Case of Gorlin?Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing

• Kwon WK
• Kim HT
• Yoon YC
• Woo HI
• Kim JW

• KMID: 2512250
• DOI: http://doi.org/10.3343/lmo.2020.10.2.175

Abstract

Gorlin–Goltz syndrome, also known as basal cell nevus syndrome, is a condition that affects several body parts and increases the risk of developing various cancerous and noncancerous tumors. This syndrome is mostly caused by the pathogenic variants of the PTCH1 and SUFU genes; however, it is rarely diagnosed due to limited prevalence. PTCH2 has rarely been identified as a pathogenic variant in patients with the Gorlin–Goltz syndrome in China and Japan. Here, we report the case of a 30-year-old woman who was diagnosed with the Gorlin–Goltz syndrome—based on multiple calcifications on the body—who carried a frame shift pathogenic variant of the PTCH2 gene (c.1172_1173del) identified via whole exome sequencing. The patient did not present the typical phenotypes of the Gorlin–Goltz syndrome, such as basal cell carcinoma, palmar/plantar pits, macrocephaly, and keratocystic odontogenic tumors. Based on these observations, we suggest that a pathogenic variant of PTCH2 can manifest a milder phenotype of the Gorlin–Goltz syndrome.

Keyword

Gorlin–; Goltz syndrome; PTCH2; PTCH1; Basal cell nevus syndrome