Table 1.

Demographic features and mutation profiles of children.

	Patient number	Sex	Current age (years)	Gene	Nucleotide position	Protein change	Mutation type	Zygosity	Pathogenecity
									ACMG classification
	1	M	13	DSP	c.2131_2132delAG	p.Ser711CysfsX4	Frameshift	Compound heterozygous	Pathogenic
					c.7756C > T	p.Arg2586X	Nonsense		Pathogenic
Group A	2	F	9	PKP2	c.2577G > T	p.Lys859Asn	Missense	Homozygous	Likely pathogenic
	3	M	9	DSP	c.250C > T	p.Arg84X	Nonsense	Heterozygous	Pathogenic
	4	M	4	JUP	c.2038_2039del	p.Trp680GlyfsX11	Frameshift	Homozygous	Pathogenic
	5	M	16	PKP2	c.2489 + 1 G > A	–	Splicing variant	Heterozygous	Pathogenic
Group B	6	M	12	DSG2	c.1003A > G	p.Thr335Ala	Missense	Heterozygous	VUS
	7	F	18	PKP2	c.2146-1G > C	–	Splicing variant	Heterozygous	Pathogenic
	8	F	12	PKP2	c.148_151delACAG	p.Thr50SerfsX61	Frameshift	Heterozygous	Pathogenic
	9	M	13	PKP2	c.148_151delACAG	p.Thr50SerfsX61	Frameshift	Heterozygous	Pathogenic
	10	M	16	PKP2	c.2146-1G > C	–	Splicing variant	Heterozygous	Pathogenic
Group C	11	F	10	DSP	c.1865 T > C	p.Leu622Pro	Missense	Heterozygous (de novo)	Likely pathogenic
	12	F	16	–	–	–	–	–	–