A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

Table 1

Clinical and genetic data of 4 COL4A5 c.499delC (p.Pro167Glnfs*36) mutation carriers.

Subject	II: 1	III: 1	III: 3	IV: 1
Gender	F	F	M	F
Age (year)	42	24	22	6
Onset-age (year)	13	20	3	3
Genotype	Heterozygote	Heterozygote	Hemizygote	Heterozygote
Renal function	ESRD at 36 years	Normal	Normal	Normal
Microscopic hematuria	Yes	Yes	Yes	Yes
Gross hematuria	Yes	No	Yes	No
Proteinuria	Yes	No	Yes	No
Uremia	Yes	No	No	No
Audiological examination	Normal	Normal	Normal	Normal
Ophthalmic examination⋆	No	No	No	No

⋆Dot-and-fleck retinopathy, anterior lenticonus and posterior polymorphous corneal dystrophy; COL4A5, the collagen type IV alpha-5 gene; F, female; M, male; ESRD, end-stage renal disease.