Table 2 Phenotype and genotype of CoQ8B(ADCK4) variants in children

Ashraf et al [11] (2013)

1–1

c.101[G > A] (het)

c.[954_956dup] (het)

p.(Trp34*)

p.(Thr319dup)

European

SRNS

FSGS

PNL, tacrolimus, renal transplantation

2–1

c.[532C > T] (homo)

p.(Arg178Trp)

Arab

SRNS

GS

renal transplantation

2–2

c.[532C > T] (homo)

p.(Arg178Trp)

Arab

SRNS

FSGS

renal transplantation

3–1

c.[645delT] (het)

c.[1430G > A] (het)

p.(Phe215Lfs*14)

p.(Arg477Gln)

Algerian

Algerian

SRNS

FSGS

renal transplantation

3–2

SRNS

FSGS

renal transplantation

4–1

c.[857A > G] (het)

c.[1447G > T] (het)

p.(Asp286Gly)

p.(Glu483*)

ND (no data)

SRNS

FSGS

CsA, renal transplantation

4–2

SRNS

FSGS

ND

4–3

SRNS

FSGS

ACEI

5–1

c.[958C > T] (homo)

p.(Arg320Trp)

Tunisian

SRNS

FSGS

ACEI, renal transplantation

5–2

SRNS

ND

No treatment

6–1

c.[1027C > T] (homo)

p.(Arg343Trp)

Moroccan

SRNS

ND

ND

6–2

SRNS

FSGS

PNL

7–1

c.[1199-1200insA] (homo)

p.(His400Nfs*11)

Turkish

SRNS

FSGS

PNL, ACEI, CP-R, CoQ10

8–1

c.[1356-1362del] (homo)

p.(Gln452Hfs)

Indian

SRNS

FSGS

CsA, ACEI

8–2

SRNS

FSGS

ACEI

Li et al [22] (2015)

1–1

c.[625C > G] (homo)

p.(Asp209His)

Chinese

Proteinuria

FSGS

CoQ10

Korkmaz et al [21] (2016)

26patients From 12families

c.[293 T > G]

p.(Leu98Arg)

Turkey

SRNS

FSGS

Immunosuppressive therapy; CoQ10

c.[929C > T]

p.(Pro310Leu)

Turkey

SRNS

FSGS

c.[1493-1494CC > AA]

p.(Ala498Glu)

Turkey

SRNS

FSGS

c.[1339dupG]

p.(Glu447Glyfs*10)

Turkey

SRNS

FSGS

Wang et al [7] (2017)

1–1

c.[241G > T] (het)

c.[1468C > T] (het)

p.(Glu81*)

p.(Arg490Cys)

Chinese

Proteinuria

FSGS

ND

2–1

c.[448C > T] (het)

c.[748G > C] (het)

p.(Arg150*)

p.(Asp250His)

Chinese

SRNS

FSGS

ND

3–1

c.[532C > T] (het)

c.[748G > C] (het)

P.(Arg178Trp)

p.(Asp250His)

Chinese

SRNS

Sclerosing

Glomerulonep-hritis

ND

4–1

c.[737G > A] (homo)

p.(Ser246Asn)

Chinese

SRNS

FSGS

ND

5–1

c.[737G > A](homo)

p.(Ser246Asn)

Chinese

Proteinuria

MsPGN

ND

6–1

c.[748G > C](homo)

p.(Asp250His)

Chinese

NS

ND

ND

7–1

c.[748G > C] (homo)

p.(Asp250His)

Chinese

SRNS

FSGS

ND

8–1

c.[748G > C] (het)

c.[1093C > G] (het)

p.(Asp250His)

p.(Gln365Glu)

Chinese

Proteinuria

FSGS

ND

Feng C et al [23] (2017)

1–1

c.[748G > C] (het)

c.[532C > T] (het)

p.(Asp250His)

P.(Arg178Trp)

Chinese

Proteinuria

ND

CoQ10

2–1

c.[625C > G] (het)

c.[614C > T] (het)

p.(Asp209His)

p.(Ser205Asn)

Chinese

SRNS

ND

PNL, tacrolimus, CoQ10

Song X et al [24] (2017)

1–1

c.[737G > A] (het)

c.[748G > C] (het)

p.(Ser246Asn)

p.(Asp250His)

Chinese

Proteinuria

FSGS+GS

PNL, tacrolimus, ACEI,CoQ10

2–1

c.[737G > A] (homo)

p.(Ser246Asn)

Chinese

SRNS

Global abandonment

PNL, HD, PD, CoQ10

3–1

c.[737G > A] (homo)

p.(Ser246Asn)

Chinese

SRNS

FSGS

PNL, PD, renal transplantation

4–1

c.[748G > C] (homo)

p.(Asp250His)

Chinese

SRNS

MsPGN

PNL, tacrolimus,MMF, CoQ10

4–2

c.[748G > C] (homo)

p.(Asp250His)

Chinese

SRNS

EndPGN

PNL, HD, PD, CoQ10

5–1

c.[748G > C] (homo)

p.(Asp250His)

Chinese

Proteinuria

FSGS+GS

ACEI,CoQ10, PD

6–1

c.[551A > G] (het)

c.[737G > A] (het)

p.(Asp184Gly)

p.(Ser246Asn)

Chinese

Proteinuria

FSGS+GS

PNL, CsA, tacrolimus, RTX, CTX, PD, CoQ10

7–1

c.[737G > A] (homo)

p.(Ser246Asn)

Chinese

Proteinuria

FSGS

PNL, CoQ10

Park E et al [6] (2017)

1–1

c.[449G > A] (het)

c.[759C > A] (het)

p.(Arg150Gln)

p.(Asn253Lys)

Korean

Proteinuria

FSGS

ND

1–2

c.[449G > A] (het)

c.[759C > A] (het)

p.(Arg150Gln)

p.(Asn253Lys)

Korean

Proteinuria

FSGS

ND

2–1

c.[737G > A] (het)

c.[759C > A] (het)

p.(Ser246Asn)

p.(Asn253Lys)

Korean

Proteinuria

FSGS

ND

3–1

c.[737G > A] (homo)

p.(Ser246Asn)

Korean

Proteinuria

FSGS

ND

4–1

c.[737G > A] (het)

c.[1468C > T] (het)

p.(Ser246Asn)

p.(Arg490Cys)

Korean

Proteinuria

FSGS

ND

5–1

c.[737G > A] (homo)

p.(Ser246Asn)

Korean

Proteinuria

FSGS

CoQ10

Lolin K et al [25] (2017)

1–1

c.[649G > A]

c.[748G > T]

p.(Ala217Thr)

P.(Asp250Tyr)

Belgian

Proteinuria

FSGS

CoQ10

Yang J et al [16] (2018)

1–1

c.[625C > G] (het)

c.[918G > T] (het)

p.(Asp209His)

p.(Cys306X)

Chinese

Proteinuria

FSGS

CoQ10

Atmaca M et al [26] (2019)

1–1, 1–2

c.[1199dupA] (homo)

p.(His400Glnfs*11)

European

Proteinuria

ND

CoQ10

2–1

c.[1199dupA] (homo)

p.(His400Glnfs*11)

European

Proteinuria

ND

CoQ10

3–1

c.[1199dupA] (homo)

p.(His400Glnfs*11)

European

Proteinuria

ND

CoQ10

4–1

c.[293 T > G] (homo)

p.(Leu98Arg)

European

Proteinuria

ND

ACEI, ARB, CoQ10

Yang Z et al [27] (2019)

1–1

c.[748G > C] (het)

c.1041G > T (het)

p.(Asp250His)

p.(Cys347*)

Chinese

Proteinuria

MGA

ND