Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
Table 4
Summary of clinical features among affected Chinese families, stratified according to gender, with COL4A5 deletion or missense mutations.
Male
Female
Deletion mutation
Missense mutation
Total
Deletion mutation
Missense mutation
Total
Microscopic hematuria
100% (23/23)
98.2% (54/55)
98.7% (77/78)
100% (16/16)
97.6% (40/41)
98.2% (56/57)
Gross hematuria
42.9% (6/14)
25.9% (7/27)
31.7% (13/41)
8.3% (1/12)
19.2% (5/26)
15.8% (6/38)
Proteinuria
100% (23/23)
92.9% (52/56)
94.9% (75/79)
62.5% (10/16)
64.1% (25/39)
63.6% (35/55)b
Impaired renal function
52.0% (13/25)
57.4% (31/54)
55.7% (44/79)
23.5% (4/17)
18.9% (7/37)
20.4% (11/54)c
ESRD
36.0% (9/25)
15.4% (8/52)a
22.1% (17/77)
11.8% (2/17)
2.6% (1/38)
5.5% (3/55)d
Age at ESRD
—
—
—
Hearing loss
52.4% (11/21)
36.0% (18/50)
40.8% (29/71)
26.7% (4/15)
20.8% (5/24)
23.1% (9/39)
Ocular lesions
23.5% (4/17)
15.8% (6/38)
18.2% (10/55)
20.0% (3/15)
9.5% (2/21)
13.9% (3/36)
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. aCompared to the deletion mutation group, .b,c,dCompared to the male group, ,, and , respectively. — indicates that the value is not applicable.
