The First Korean Case of Gorlin?Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing
10.3343/lmo.2020.10.2.175
- Author:
Won Kyung KWON
1
;
Hyoung Tae KIM
;
Young Cheol YOON
;
Hye In WOO
;
Jong-Won KIM
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- Publication Type:Case Report
- From:Laboratory Medicine Online
2020;10(2):175-178
- CountryRepublic of Korea
- Language:English
-
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.
