Table 1 Genotypic and phenotypic characteristics of COQ8B variants (at position chr19:41209497) in children.

From: Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome

Family (cases)

cDNA change

AA change

Zygosity

Phenotype

Renal histopathology

Treatment

Ethnic group

References

7 (2)

c.748G > A

p.Asp250Asn

Homozygous

SRNS

ND

Transplant in 01 case

Indian

Current study

2 (1)

c.748G > C

p.Asp250His

Heterozygous

SRNS

FSGS

ND

Chinese

14

3 (1)

c.748G > C

p.Asp250His

Heterozygous

SRNS

Sclerosing glomerulonephritis

ND

Chinese

14

6 (1)

c.748G > C

p.Asp250His

Homozygous

SRNS

NS

ND

Chinese

14

7 (1)

c.748G > C

p.Asp250His

Homozygous

SRNS

FSGS

ND

Chinese

14

8 (1)

c.748G > C

p.Asp250His

Homozygous

Proteinuria

FSGS

ND

Chinese

14

1 (1)

c.748G > C

p.Asp250His

Heterozygous

Proteinuria

ND

CoQ10

Chinese

5

1(1)

c.748G > C

p.Asp250His

Heterozygous

Proteinuria

MGA

ND

Chinese

15

1(1)

c.748G > T

p.Asp250Tyr

Heterozygous

Proteinuria

FSGS

CoQ10

Belgian

16

  1. ND Not done or no data, NS nephrotic syndrome, FSGS focal segmental glomerulosclerosis, MGA minor glomerular abnormalities.
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