Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

Table 1

Demographic and clinical characteristics of the patients.

	Gender	Age at onset (year)	KFR	Neu	HA	Urin Cu	Biopsy	Cerul (g/L)	ATP7B status	WD score	Phenotype
Patient 1	Female	12	P	A	A	++	ND	0.18	p.Met769-fs/p.His1069Gln	6	S
Patient 2	Male	17	A	P	A	+	ND	0.05	p.Ala1063Val/p.His1069Gln	6	N1
Patient 3	Male	8	P	A	A	++		0.06	p.His1069Gln/p.Gln1351Stop	8	H2
Patient 4	Male	17	P	A	A	+	ND	0.03	p.Ala1135-fs/p.Leu1305Pro	5	H2
Patient 5	Male	44	A	A	A	++	ND	0.08	p.Ala1270Ile/c.1707+2dupT	4	H1
Patient 6	Male	14	P	P	A	ND	ND	0.04	p.Arg969Gln/p.His1069Gln	7	N2

KFR: Kayser-Fleischer ring; Neu: neurological signs and/or CT/MRI alterations; HA: hemolytic anemia; Urin Cu: urinary copper, 1-2X ULN: +, >2x ULN or positive D-penicillamine challenge: ++; Cerul: ceruloplasmin, P: present; A: absent; ND: not done; S: sibling; H1: acute liver failure; H2: chronic liver disease; N1: neurological symptoms with liver disease; N2: only neurological symptoms.
According to the international score system, 4 or more scores, diagnosis of WD is highly likely. Rhodanine positivity.