Table 1 Summary of molecular data of patients with JEB

From: Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

Fam./ Pat.no	Age/sex	Diagnosis	Genomic variants	Protein change	ACMG/AMP classification	Family history	Origin
LAMA3
1/1	19 m*/M	Severe	c.1478+5 G > A c.4647+5 G > C	p.V1461fs²^,& p.T1551fs²^,&	Pathogenic Pathogenic	No	Father Mother
2/2	7 y/M	Intermediate	c.6667 G > T c.6305+1 G > A	p.G2223C² Splicing²	VUS Pathogenic	No	Father Mother
3/3	1 y/M	Severe	c.4042 C > T c.748 C > T	p.Q1348X² p.Q50X²	Pathogenic	No	Father Mother
LAMB3
4/4	19 m*/M	Severe	c.3119 G > A c.629-12 T > A	p.W1040X^2,20 Splicing²	Pathogenic VUS	No	Father Mother
5/5	14 m*/F	Severe	c.3119 G > A c.2188 C > T	p.W1040X²⁰ p.Q730X^Clinivar,²	Pathogenic Pathogenic	No	Mother Father
6/6	43 y/M	Intermediate	c.1705 C > T c.3512 G > A	p.R569X^2,21 p.C1171Y²	Pathogenic VUS	No	NA NA
7/7	6 m*/M	Severe	c.20 T > A c.3119 G > A	p.L7X² p.W1040X^2,20	Pathogenic Pathogenic	No	Father Mother
8/8	4 y/F	Intermediate	c.2346delC c.2346delC	p.P783fs² p.P783fs²	Pathogenic Pathogenic	No	Mother Father
9/9	12 y/F	Intermediate	c.1903C>T c.629-12 T > A	p.R635X²² Splicing	Pathogenic VUS	No	Mother Father
10/10	4 m*/F	Severe	c.1802delG A deletion of exon 1-2	p.R601Nfs -	Pathogenic Pathogenic	No	Mother Father
11/11	10 y/M	Intermediate	c.1390 C > T c.1178_1179delACinsGTGCAAGAG	p.Q464X p.D393Gfs	Pathogenic Pathogenic	No	Father Mother
12/12	4 y/M	Intermediate	c.2137+1 G > T c.2137+1 G > T	Splicing Splicing	Pathogenic	No	Father Mother
13/13	54 y/M	Intermediate	c.28+1 G > A	Splicing	Pathogenic	No	NA
14/14	2 y/F	Intermediate	c.1172_1179delinsTGTGTGTGCAAGGAG	p.P391Lfs	Pathogenic	No	Father
			c.1172_1179delinsTGTGTGTGCAAGGAG	p.P391Lfs	Pathogenic		Mother
15/15	7 y/M	Intermediate	c.1172_1179delinsTGTGTGTGCAAGGAG	p.P391Lfs	Pathogenic	No	Mother
			c.3119 G > A	p.W1040X²⁰	Pathogenic		Father
16/16	5 d/M	Severe	c.2887 C > T	p.Q963X	Pathogenic	No	Mother
			c.2983 C > T	p.Q995X	Pathogenic		Father
17/17	31 y/M	Intermediate	c.1172_1179delinsTGTGTGTGCAAGGAG	p.P391Lfs	Pathogenic	Yes	Father
			c.1172_1179delinsTGTGTGTGCAAGGAG	p.P391Lfs	Pathogenic		Mother
18/18	5 m/F	Severe	c.3163del	p.A1055Qfs	Pathogenic	No	Mother
			c.2170 C > T	p.Q724X^Clinivar	Pathogenic		Father
19/19	23 y/M	Intermediate	c.2346delC c.755 G > A	p.T783Pfs^Clinivar p.C252Y	Pathogenic VUS	No	Father Mother
20/20	4 y/M	Intermediate	c.124 C > T	p.A42X²²	Pathogenic	No	NA
			c.3512 G > A	p.C1171Y	VUS		NA
21/21	2 m*/F	Severe	c.2188 C > T	p.Q730X^Clinivar	Pathogenic	No	NA
			c.1705 C > T	p.R569X²¹	Pathogenic		NA
22/22	2 y*/M	Severe	c.2728 C > T	p.E910X	Pathogenic	No	Mother
			c.906 G > A	p.W302X	Pathogenic		Father
23/23	7 m*/M	Severe	c.3119 G > A	p.W1040X²⁰	Pathogenic	No	Mother
			c.3119 G > A	p.W1040X²⁰	Pathogenic		Father
24/24	5 m*/F	Severe	c.2914 C > T	p.R972X	Pathogenic	No	Father
			c.2188 C > T	p.Q730X^Clinivar	Pathogenic		Mother
25/25	2.5 y/M	Severe	c.298+5 G > C	Splicing	VUS	No	Father
			c.1705 C > T	p.R569X²¹	Pathogenic		Mother
26/26	14 y/F	Intermediate	c.761 G > A	p.G254D²³	LP	No	Mother
			c.124 C > T	p.A42X²²	Pathogenic		Father
27/27	2 m/F	Intermediate	c.439 C > T	p.Q147X	Pathogenic	No	Father
			c.2914 C > T	p.R972X	Pathogenic		Mother
LAMC2
28/28	32 y/M	Intermediate	c.764 C > T c.1882C>T	p.A255V p.Q628X	VUS Pathogenic	No	Father Mother
29/29	5 m*/F	Severe	c.733 C > T c.1141 C > T	p.R245X²⁴ p.Q381X	Pathogenic Pathogenic	No	Mother Father
30/30	2 m/M	Severe	c.504-12 A > G c.2485 C > T	Splicing p.Q829X	VUS Pathogenic	No	Mother Father
31/31	4 y*/F	Intermediate	c.3385 C > T	p.R1129X²⁵	Pathogenic	No	NA
			c.2869 G > A	p.E957K	VUS		NA
32/32	1 y/F	Intermediate	c.1468 G > T	p.G490C	VUS	No	Mother
			c.2341 G > T	p.E781X²⁰	Pathogenic		Father
33/33	3 y/M	JEB	c.1882C>T c.3229-2 A > G	p.Q628X Splicing	Pathogenic Pathogenic	No	Father Mother
34/34	4.5 y/F	Intermediate	c.2755-2 A > G	Splicing^Clinivar	LP	No	Father
			c.3242 C > T	p.A1081V	VUS		Mother
35/35	28 y/F	Intermediate	c.191_192dup	p.C65Tfs	Pathogenic	Yes	Father
			c.212_214delinsCC	p.G71Afs	Pathogenic		Mother
35/36	26 y/F	Intermediate	c.191_192dup	p.C65Tfs	Pathogenic	Yes	Father
			c.212_214delinsCC	p.G71Afs	Pathogenic		Mother
ITGB4
36/37	6 y/M	with UT	c.395delT c.542 C > T	p.L132Rfs p.P181L	LP VUS	No	Father Mother
37/38	19 y/F	with UT	c.593_594insC c.599 C > G	p.D198Dfs p.P200R^26,27,28	Pathogenic LP	No	NA NA
38/39	2 d/M	with PA	c.215 G > A c.215 G > A	p.C72Y p.C72Y	VUS VUS	No	Mother Father
39/40	43 d/M	with PA	c.1684 T > C c.3719 G > A	p.C562R²⁹ p.W1240X	LP Pathogenic	No	Mother Father
40/41	2 y/M	with DA	c.1370 G > A c.1076 T > C	p.C457Y³⁰ p.L359P	LP VUS	No	Mother Father
41/42	26 y/M	with PA	c.914 C > T	p.P305L	LP	No	NA
			c.1684 T > C	p.C562R²⁹	LP		NA
42/43	6 m/M	Localized	c.2578 G > A c.2785 G > A	p.G860S^Clinivar p.A929T	VUS VUS	No	Father Mother
43/44	1.5 y/M	Localized	c.2291 T > C	p.L764P	VUS	No	NA
			Whole gene delete	-	Pathogenic		NA
44/45	7 y/M	Localized	c.3931 G > T	p.E1311X	Pathogenic	No	NA
45/46	5 y/F	with UT	c.3728 C > T	p.P1243L	VUS	No	Mother
			c.1081 G > T	p.E361X	Pathogenic		Father
46/47	2 y/M	with gastric	c.2524 C > T	p.Q842X	Pathogenic	No	Father
		torsion	c.1343_1360dup	p.A448_D453dup	LP		Mother
47/48	1 y/F	with PA	c.1805A>T	p.P305L²⁶	LP	No	Mother
48/49	47 d/F	Localized	c.599 C > G	p.P200R^26,27,28	LP	No	Mother
			c.1953C>A	p.C651X	Pathogenic		Father
			c.3221 G > A	p.R1074H	VUS		Father
49/50	20 d/F	with PA	c.1454+2 T > C	Splicing	Pathogenic	No	Father
			c.4818 C > T	p.R1540X	Pathogenic		Mother
COL17A1
50/51	5 m/M	JEB	c.426delT c.2383 C > T	p.I142fs p.R795X	Pathogenic Pathogenic	No	Mother Father
51/52	6 y/F	Localized	c.1507delG	p.E503fs	Pathogenic	No	Mother
52/53	30 y/F	Intermediate	c.3482_3483del	p.Y1161X	Pathogenic	No	Mother
53/54	29 y/M	Intermediate	c.2383 C > T c.558_567del	p.R795X³¹ p.K187Lfs	Pathogenic Pathogenic	No	Mother NA
54/55	7 y/F	Intermediate	c.4011 T > A	p.Y1337X	LP	Yes	Mother
			c.3071-6 C > A	Splicing	VUS		Father
55/56	1 y/F	Intermediate	c.2635 C > T	p.R879X	Pathogenic	No	Mother
			c.4159 C > T	p.Q1387X	Pathogenic		Father
56/57	24 y/F	Intermediate	c.4088delT	p.L1363fs	Pathogenic	No	Mother
57/58	2 d/F	Intermediate	c.2350 C > T	p.Q784X	Pathogenic	No	Mother
			c.2875delC	p.Q959Rfs	Pathogenic		Father
58/59	16 y/F	Intermediate	c.2975 C > A	p.S992X	Pathogenic	Yes	Father
			c.427 C > T	p.R143X	Pathogenic		Mother
59/60	8 y/F	Intermediate	c.2975 C > A	p.S992X	Pathogenic	Yes	Father
			c.427 C > T	p.R143X	Pathogenic		Mother
60/61	27 y/M	Intermediate	c.1612delA	p.I538Lfs	Pathogenic	No	Father
61/62	2 y/M	Intermediate	c.3801insC	p.G1268Rfs	Pathogenic	No	NA
			c.3801insC	p.G1268Rfs	Pathogenic		NA
62/63	16 m/M	Intermediate	c.997 C > T	p.Q333X	Pathogenic	No	Father
			c.3481dupT	p.Y1161fs	Pathogenic		Mother
63/64	2 y/M	Localized	c.4156+1 G > A	Splicing³²	Pathogenic	No	Father
			c.2496dupT	p.G833Rfs	Pathogenic		Mother
64/65	12 y/F	Intermediate	c.3340_3349del	p.P1114Vfs	Pathogenic	No	Mother
65/66	18 y/F	Intermediate	c.1465del	p.A489Rfs	Pathogenic	No	Father
			c.3281del	p.D1094Vfs	Pathogenic		Mother
66/67	65 y/M	Intermediate	c.3908 G > A	p.R1303Q³¹	Pathogenic	No	NA
			c.3908 G > A	p.R1303Q³³	Pathogenic		NA
67/68	39 y/M	Intermediate	c.3281del	p.D1094Vfs	Pathogenic	No	Mother
68/69	5 y/F	Intermediate	c.1880G>T	p.G627V³⁴	LP	No	Father
			c.1239_1240del	p.S414Hfs⁶	Pathogenic		Mother

PA pyloric atresia, DA duodenum atresia, UT urinary tract involvement, VUS variant of uncertain significance, LP Likely pathogenic.^*died, age of death. &, Variants led to frameshift changes as tested by our team’s laboratory.
Pat.1-2 with LAMA3 variants, Pat.4-25 with LAMB3 variants, Pat.28-36 with LAMC2 variants, Pat.37-45 with ITGB4 variants and Pat. 51-64 with COL17A1 variants have been reported previsously^2,3.

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Table 1 Summary of molecular data of patients with JEB

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