Abstract
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a close homolog of PTCH1, was reported. However, the pathological significance of missense mutations should be discussed cautiously. Here, we report a 13-year-old girl diagnosed with NBCCS based on multiple keratocystic odontogenic tumors and rib anomalies carrying a frameshift mutation in the PTCH2 gene (c.1172_1173delCT). Considering the deleterious nature of the frameshift mutation, our study further confirmed a causative role for the PTCH2 mutation in NBCCS. The absence of typical phenotypes in this case such as palmar/plantar pits, macrocephaly, falx calcification, hypertelorism and coarse face, together with previously reported cases, suggested that individuals with NBCCS carrying a PTCH2 mutation may have a milder phenotype than those with a PTCH1 mutation.
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Acknowledgments
This research was supported by Science Research Grants for intractable diseases in Japan (H22-intractable diseases-120) from the Ministry of Health, Labour and Welfare, and by a Grant-in-Aid for Scientific Research (20591261) from the Ministry of Education, Culture, Sports, Science and Technology.
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Fujii, K., Ohashi, H., Suzuki, M. et al. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Familial Cancer 12, 611–614 (2013). https://doi.org/10.1007/s10689-013-9623-1
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DOI: https://doi.org/10.1007/s10689-013-9623-1