A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

Table 2

The clinical characteristics of patients carrying COL4A3 mutations.

References	Populations	Age	Gender	Mutation state	Mutation	Hematuria	Proteinuria	Hearing loss	Ocular lesions
[16]	UK	47	M	Heterozygous	c.3418+1G>T c.4664C>T;	+	+	+	+
[17]	Spanish	58	M	Heterozygous	c.998G>A;	+	+	+	—
[18]	Sri Lankan	14	F	Homozygous	c.1219G>T; c.1223_1224delGG	+	+	+	—
[9]	Spanish	32	F	Heterozygous	c.345 delG;	+	+	+	+
[19]	Ashkenazi Jewish	2	F	Homozygous	c.40_63del	+	+	+	—
[19]	UK	14	UK	Heterozygous	c.40_63del	+	+	—	—
[19]	Spanish	UK	F	Compound heterozygote	c.40_63del	—	+	+	+
[20]	Cypriot	32	F	Heterozygosity	c.2621-2622delGAinsT	+	+	+	+
[20]	Cypriot	UK	M	Heterozygosity	c.3229G>A	+	+	—	—
[6]	Caucasian	8	F	Compound heterozygous	del393G_E131fsX151 2806C>T	+	+	+	—
[6]	Caucasian	35	F	Heterozygous	c443G>T	+	+	—	—
[6]	Caucasian	33	M	Heterozygous	c4981C>T	_	+	—	—
[6]	Caucasian	36	F	Heterozygous	c2083G>A	+	+	+	—
[21]	Chinese	45	M	Heterozygous	c. 2290G >A	+	+	—	—
[22]	Turkish	15	F	Heterozygous	C.2T>C	+	+	+	+
[23]	Italian	13	F	Heterozygous	c.872G>A	+	+	—	—
[24]	African American	14	M	Compound heterozygous	c.4486C>T c.4546C>T	+	+	+	—
[25]	Slovenia	56	F	Heterozygous	c.3547_3548in-sGGA	+	—	—	—
[25]	Slovenia	38	M	Heterozygous	c.1459G>T	+	—	—	—
[26]	Chinese	28	F	Homozygous	c.3725G>A	+	+	+	+
Current study	Chinese	16	M	Heterozygous	c.3227C>T	—	—	+	+
Current study	Chinese	47	F	Heterozygous	c.3227C>T	—	—	+	+
Current study	Chinese	2	M	Heterozygous	c.3227C>T	—	—	—	—

UK: unknown; M/F: male/female; +/-: positive/negative.