Table 2. Phenotypes and genotypes of the patients.

Patient	Age/Sex*1	Type of mutation	Nucleotide change	Amino acid change	Symptoms
G11	14/M	Frameshift	c.3130_3131dupGC	p.V1045LfsX23	Macrocephaly, mental retardation, polydactyly of right lower extremity, palmar pits, rib anomaly
G12	42/F	Frameshift	c.3130_3131dupGC	p.V1045LfsX23	Palmar pits, odontogenic keratocysts of the jaw, multiple BCCs
G36	6/F	Deletion of the whole PTCH1 gene			Bifid ribs, kyphoscoliosis, macrocephaly, frontal bossing, hypertelorism
G72	36/F	Frameshift	c.272delG c.274delT*2	p.G91VfsX26 p.C92VfsX25	Odontogenic keratocysts of the jaw, palmar pits, calcification of falx cerebri, stomach cancer

*1: Age: years of age when skin sample was taken, M: male, F: female.

*2: Patient “G72” had a germline mutation, c.272delG, and a low prevalence of somatic mutation, c.274delT, that was derived from the allele with a germline mutation, but not from the wild-type allele [25].