Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report

Table 1 ATP7B genotypes and phenotypes of WD patients with the c.3517G > A mutation

Patient	Sex	Nationality	Genotype*	Phenotype							references
Patient	Sex	Nationality	Genotype*	Onset age (Y)	K-F ring	ALT (IU/L)	AST (IU/L)	Serum CP (mg/L)	Serum Cu (μmol/L)	Urine Cu (μg/24 h)	references
1	M	Chinese	c.532_574del (p.Leu178PhefsX10)	10	+	21	19	20	1.5	256	This study
1	M	Chinese	c.3517G > A (p.Glu1173Lys)	10	+	21	19	20	1.5	256	This study
2	M	Chinese	c.2333 G > T (p.Arg778Leu)	11	–	162	78	20	\	532	[18]
2	M	Chinese	c.3517G > A (p.Glu1173Lys)	11	–	162	78	20	\	532	[18]
3	F	Chinese	c.2975C > T (p.Pro992Leu)	15	+	\	\	45	\	243	[19]
3	F	Chinese	c.3517G > A (p.Glu1173Lys)	15	+	\	\	45	\	243	[19]
4	\	France	c.3598C > T(p.Gln1200Ter)	33	\	\	\	120	6.5	\	[20]
4	\	France	c.3517G > A (p.Glu1173Lys)	33	\	\	\	120	6.5	\	[20]

Notes: “-”, negative; “+”, positive; “\”, unknown; “*”, compound heterozygote; F female, M male, Y years, ALT alanine aminotransferase, AST aspartate aminotransferase, CP ceruloplasmin, Cu copper. Normal ranges are: ALT, 10~ 40 IU/L; AST, 15~ 46 IU/L; serum CP, 200~ 600 mg/L; serum Cu, 11~ 22 μmol/L; urine Cu, 0~ 60 μg/24 h

ISSN: 1471-2350