Table 4.

Review of the characteristics of PHAII patients with KLHL3 gene mutations

Author	Mutation	Exon	het/hom	Pattern of inheritance	Family history or not	Age at diagnosis (years)	Sex	Serum potassium
This study	T110A	4	hom	recessive	sporadic	56	M	5.44
Yang [16]	S433N	11	het	dominant	sporadic	23	F	6.3
Doan [17]	A474V	11	het	dominant	sporadic	0.16	F	6.4
Kliuk-Ben Bassat [13]	S553L	13	hom	recessive	pedigree	1	M	7.1
						34	F	6.2
	Q309R	8	het	dominant	pedigree	63	M	5.6
						62	F	4.8
						57	M	5.1
						54	M	6.4
						47	F	5.1
						47	F	5.1
						44	M	NA
						18	M	5.2
						15	F	5.8
						12	F	5.3
Mayan [12]	Q309R	8	het	dominant	pedigree	69	F	5.4
						48	F	5.4
						11	M	6.4
						11	M	7.2
						10	F	5.3
	R528H	13	het	dominant	pedigree	38	F	5.6
						15	F	6
						13	F	6.2
						8	F	5.8
						2	M	7
Park [11]	C164F	4	het	dominant	sporadic	0.8	F	6.3
	S433N	11	het	dominant	pedigree	1.7	F	6.9
	S433N	11	het	dominant	pedigree	23	F	6.4
Mitani [14]	L387P	9	het	dominant	sporadic	3	M	6.6
Kelly [15]	H498Y	13	het	dominant	pedigree	18	M	7.3