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

Table 1

Clinical and genetic data for the family with the COL4A3 c.3227C>T (p.P1076L) mutation.

Subject	I-1	I-2	II-1	II-2	II-3	II-4	III-1
Age	47	50	20	21	22	16	2
Gender	F	M	F	F	F	M	M
Hearing loss	Mild	Normal	Profound	Profound	Profound	Profound	Normal
Hematuria	No	No	No	No	No	No	No
Microhematuria	No	No	No	No	No	No	No
Proteinuria (g/24 h)	0.095	0.099	0.100	0.106	0.120	0.059	0.008
Creatinine (μmoI/L)	54	66	58	67	59	73	27
Renal failure	No	No	No	No	No	No	No
Nyctalopia	Yes	No	Yes	Yes	Yes	Yes	No
Visual field loss	No	No	Yes	Yes	Yes	Yes	No
Pigmented retinopathy	No	No	Yes	Yes	Yes	Yes	No
Genotype	Heterozygote	Normal	Heterozygote	Heterozygote	Heterozygote	Heterozygote	Heterozygote

M/F: male/female.