Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
Table 3
Summary of clinical features among affected Chinese families with COL4A5 deletion or missense mutations.
Deletion mutation
Missense mutation
Total
Number of reportsa
9
9
13
Pedigree
24
64
88
Participants
43
98
141
Mutations/variants
24
63
87
Number of involving exon
26
33
37
Gender (male : female)
26 : 17
57 : 41
83 : 58
Age of onset
()
()b
()
Age at study
()
()
()
Microscopic hematuria
100% (39/39)
97.9% (94/96)
98.5% (133/135)
Gross hematuria
26.9% (7/26)
22.6% (12/53)
24.1% (19/79)
Proteinuria
84.6% (33/39)
81.1% (77/95)
82.1% (110/134)
Impaired renal function
40.5% (17/42)
41.8% (38/91)
41.4% (55/133)
ESRD
26.2% (11/42)
10.0% (9/90) c
15.2% (20/132)
Age at ESRD
Hearing loss
41.7% (15/36)
31.1% (23/74)
34.5% (38/110)
Ocular lesions
21.9% (7/32)
13.6% (8/59)
16.5% (15/91)
The categorical variable was expressed as % (), where indicates the number of positive observations and indicates the total number of indicators observed. ESRD: end-stage renal disease. aNot included in this study. bCompared to the deletion mutation group, .cCompared to the deletion mutation group, .
