Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports

Table 1 Literature review of previously reported Crumbs homolog 2 mutation patients

Reference	Age at diagnosis	Gender	Main clinical manifestations	Nucleotide change	Exon
Jaron et al[15]	7 yr	Male	Ventriculomegaly and hydronephrosis	c.2400C>G; c.3089_3104dup	8; 10
	5.5 yr	Male	Ventriculomegaly and hydronephrosis	c.2400C>G; c.3089_3104dup	8; 10
Lamont et al[16]	8 mo	Female	Ventriculomegaly and nephromegaly with multiple macrocysts	c.(3291_3292delCT); c.(3343C>T)	10; 10
	2 mo	Male	Ventriculomegaly and increased echogenicity of kidney	c.(3385T>C); c.3108_3109insCCGGCGCGGCCCCGGC	10; 10
	8 d	Female	persistent echogenicity of the kidneys and ventriculomegaly	c.(1494G>T); c.(3227A>C)	7; 10
	8 d	Female	persistent echogenicity of the kidneys and ventriculomegaly	c.(1494G>T); c.(3227A>C)	7; 10
Ebarasi et al[7]	6 yr	ND	SRNS	c.1859G>C	7
	4 yr	ND	SRNS	c.1859G>C	7
	9 mo	ND	SRNS	c.1882C>T; (c.3089_3104dup)	7; 10
	3 yr	ND	SRNS	c.1886G>C	7
	NR	ND	SRNS	c.3746G>A	13
Watanabe et al[10]	3.5 yr	Female	SRNS	c.1882C>T; c.2515G>T	7; 9
Udagawa et al[17]	3 yr	Female	SRNS	c.3256_3273del18insCGGCCCGGGGTGG; c.3551A>C	10; 12
Fan et al[18]	7 yr	Male	SRNS	c.3190C>T; c.2705C>T	10; 10
Slavotinek et al[20]	1 mo	Male	Cerebral ventriculomegaly and congenital nephrosis	c.1897C>T	7
Chen et al[19]	51 yr	Female	Retinitis pigmentosa	c.3745C>G	13
	46 yr	Female	Retinitis pigmentosa	c.3745C>G	13

ND: Not data; SRNS: Steroid-resistant nephrotic syndrome.