BioMed Research International / 2021 / Article / Tab 1

Research Article

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Table 1

Clinical and laboratory features of participants harboring the COL4A5 c.422_428del (p.Leu142Valfs11) variant in pedigree 1.

SubjectsGenderAge (years)Urine testRenal functionExtrarenal symptomsFollow-upbMutation status
MHGHProteinuriaBUNScrAge at ESRDHearing lossOcular lesionsBUNScrAge at ESRD

I-2F90YNN4.651NNN4.552NHeterozygous
II-9M60NNN7.579NNN7.681NWild homozygous
II-12F60YNN4.552NNN4.960NHeterozygous
II-14F56NNN5.457NNN5.355NWild homozygous
III-1M18a18
III-2M21a21
III-3M33YNY19.8516NYY36.8118034Hemizygous
III-4M31YNY49.9179331YY30.4107531Hemizygous
III-5M25a25N
III-6F26YNN5.761NNN5.152NHeterozygous
III-7M22NNN5.973NNN5.668NWild homozygous
III-8M20NNN5.876NNN6.179NWild homozygous

BUN: blood urea nitrogen (mmol/L); ESRD: end-stage renal disease; F: female; GH: gross hematuria; HD: hemodialysis; M: male; MH: microscopic hematuria; N: no; Scr: serum creatinine (μmol/L), reference value, 46–103 μmol/L; Y: yes. aThe age of death. bFollow-up results one year after gene detection. — indicates that the value is not applicable.