. 2020 Dec 10;10:21622. doi: 10.1038/s41598-020-78344-9

Table 1.

Summary of previously reported patients with biallelic homozygous JUP mutations presented with concomitant skin and cardiac manifestations.

Family No	No. of patients	Country of Origin	Age	Mutation	Exon/Intron	Integumentary manifestation	Cardiac involvement	Age at cardiac presentation
1	2	Kuwait¹⁵	6 m, 12 m	p.468G > A	Ex 3^#	Skin fragility, PPK, sparse woolly hair, nail dystrophy	–	N/A
2	3^§	Argentina¹⁵	2–11 y	p.Ser24^*	Ex 2	Skin fragility, PPK, sparse woolly hair, nail dystrophy	–	N/A
3	1^§	Argentina¹²	17 y	p.Ser24^*	Ex 2	Skin fragility, PPK, sparse woolly hair, nail dystrophy	DCM (left)	19 y
4	1	N/R¹⁴	18 d^¶	p.Gln184^*	Ex 4	Skin fragility, alopecia, nail dystrophy	Perivascular fibrosis myocyte dropout**	N/A
5	1	N/R¹³	12 d^¶	p.Gln539^*	Ex 9	Skin fragility, alopecia, onycholysis	Unkown	N/A
6	2	Turkey²⁹	34–46 y	p.Arg265His	Ex 5	NEPPK, alopecia	ARVC	20 y, N/R
7	7	France-Canada³⁰	12–77 y	p.Glu301Gly	Ex 5	NEPPK, woolly hair	ARVC	18 y–48 y
8	19⁺	Greece⁷	N/R	p.Trp680Glyfs^*11	Ex 12	NEPPK, woolly hair	ARVC	N/R
9	28⁺	Greece¹¹	1–61 y	p.Trp680Glyfs^*11	Ex 12	NEPPK, woolly hair	ARVC	12–68 y
10	2	Iran^{(this study)}	2.5 y, 22 y	p.Ser68Alafs^*92	Ex 2	Skin fragility, PPK, alopecia, nail dystrophy	Uncertain, ARVC	N/A

^§, + : The patients are shared; ¶: deceased; d: day; m: month; y: year; N/R: Not reported; N/A: Not available; NEPPK: Non-epidermolytic palmoplantar keratoderma; ARVC: Arrhythmogenic right ventricular cardiomyopathy; DCM: Dilated cardiomyopathy.

^#Synonymous mutation at the border of exon 3 and IVS 3 resulted in aberrant splicing.

**The results of post-mortem autopsy.