Table 1 Families with EoE and pathogenic variants in DSP and/or PPL.

From: Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

Patient	Gender	Variant			Subject characteristics and medical history
Patient	Gender	Gene(s)	Protein	cDNA	Age at onset (years)	Atopic status	Peak Eos/hpf	Endoscopic phenotype	Symptoms
430^a		DSP	p.G46D	c.G137A
		PPL	p.V1377E	c.T4130A
1	Male				8.1	BA, AR, AnFA	177	Inflammatory	Dysphagia, GERD, N/V, Pain
2	Female				45.0	BA	17	Normal-appearance	Dysphagia, GERD, N/V, Pain
4	Male				11.0	BA	55	Inflammatory	Dysphagia, GERD, Pain
11	Male				58.0	BA	73	Inflammatory	Dysphagia, GERD, N/V, Pain
19	Male				16.0	BA	24	Inflammatory	Dysphagia, GERD, N/V, Pain
305		DSP	p.R808C	c.C2422T
1	Female				7.7	AR	145	Fibrostenotic	Dysphagia, GERD, N/V, Pain
2	Male				6.0	AR	154	Fibrostenotic	Dysphagia, GERD, N/V, Pain
6	Male				12.8	BA, AR	26	Fibrostenotic	Dysphagia, GERD, N/V, Pain
964		DSP	p.Y895C	c.A2684G
1	Male				1.5	AR, AD, AnFA	65	Normal-appearance	Dysphagia, GERD, N/V, Pain
2	Female				4.1	AR, AD, AnFA	148	Inflammatory	Dysphagia, Pain
2285		DSP	p.1067_1068del	c.3201_3202del
1	Female				5.5	BA, AR, AD	40	Inflammatory	Dysphagia, GERD, N/V, Pain
2	Female				4.0	BA, AR, AD	37	Inflammatory	Dysphagia, GERD, N/V, Pain
3	Male				2.5	BA, AR	41	Inflammatory	Dysphagia, GERD, N/V, Pain
999		DSP	p.N1215S	c.A3644G
1	Male				2.6	AR, AD	100	Normal-appearance	Dysphagia, GERD, N/V, Pain
2	Female				33.2	AD	16	Inflammatory	Dysphagia, GERD, N/V, Pain
471		DSP	p.R1340C	c.C4018T
1	Female				6.8	BA, AnFA	162	Fibrostenotic	Dysphagia, GERD, N/V, Pain
4	Male				8.6	BA, AR	134	Fibrostenotic	Dysphagia, GERD, N/V, Pain
1594		DSP	p.E1723Q	c.G5167C
1	Male				15.5	BA, AR	60	Inflammatory	Dysphagia, GERD
2	Male				11.4	No	112	Fibrostenotic	Dysphagia, GERD, N/V, Pain
179		PPL	p.R108C	c.C322T
1	Female				4.2	AR	147	Inflammatory	GERD, N/V, Pain
2	Male				3.1	AD	120	Inflammatory	GERD, N/V, Pain
186		PPL	p.R108C	c.C322T
1	Male				1.0	No	155	Inflammatory	GERD, N/V, Pain
4	Female				12.0	BA, AR	332	Inflammatory	Dysphagia, GERD
387		PPL	p.E632K	c.G1894A
1	Male				3.8	BA, AD, AnFA	33	Inflammatory	Dysphagia, GERD, N/V, Pain
2	Male				14.3	AR	50	Inflammatory	Dysphagia, GERD, N/V
1176		PPL	p.K1051V	c.3151_3152delinsGT
1	Male				5.3	BA, AD	52	Inflammatory	Dysphagia, Pain
2	Female				3.5	BA, AD, AnFA	55	Fibrostenotic	Dysphagia, GERD, N/V, Pain
1029		PPL	p.L1154V	c.C3460G
1	Female				8.1	BA, AR, AnFA	243	Inflammatory	Dysphagia, N/V, Pain
2	Male				8.6	BA, AR	137	Fibrostenotic	N/V, Pain
44		PPL	p.E1163K	c.G3487A
1	Male				13.0	BA, AR, AnFA	54	Normal-appearance	Pain
4	Male				11.9	BA, AR, AnFA	95	Inflammatory	Pain

^a Discovery set DSP desmoplakin, PPL periplakin, BA bronchial asthma, AR allergic rhinitis, AnFA anaphylaxis by food, GERD gastroesophageal reflux, N/V nausea and/or vomiting, eos/hpf eosinophils per high-power microscopic field.

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Table 1 Families with EoE and pathogenic variants in DSP and/or PPL.

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