BioMed Research International / 2021 / Article / Tab 3

Research Article

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 mutationMissense mutationTotal

Number of reportsa9913
Pedigree246488
Participants4398141
Mutations/variants246387
Number of involving exon263337
Gender (male : female)26 : 1757 : 4183 : 58
Age of onset () ()b ()
Age at study () () ()
Microscopic hematuria100% (39/39)97.9% (94/96)98.5% (133/135)
Gross hematuria26.9% (7/26)22.6% (12/53)24.1% (19/79)
Proteinuria84.6% (33/39)81.1% (77/95)82.1% (110/134)
Impaired renal function40.5% (17/42)41.8% (38/91)41.4% (55/133)
ESRD26.2% (11/42)10.0% (9/90) c15.2% (20/132)
Age at ESRD
Hearing loss41.7% (15/36)31.1% (23/74)34.5% (38/110)
Ocular lesions21.9% (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, .