Nephrotic Syndrome, Type 13

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NPHS2, NUP205, NUP93, WT1, NPHS1, ACTN4, TBC1D8B, NUP133, NUP107, XPO5, ANKFY1, INF2, NUP37, NUP85, COQ8B, ARHGAP24, ANLN, CD2AP, PLCE1, GAPVD1, ARHGDIA, NUP160, APOL1, TRPC6, PTPRO, PAX2, MYO1E, EMP2, COL4A3, CRB2

Drugs

Fresolimumab, Propagermanium

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A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 13 (NPHS13) is caused by homozygous mutation in the NUP205 gene (614352) on chromosome 7q33. One such family has been reported.

For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).

Clinical Features

Braun et al. (2016) reported 2 sibs, born of unrelated Turkish parents (family A1733), with early-onset steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). The patients had onset of renal dysfunction at ages 2 and 3 years, respectively; 1 had end-stage renal disease at age 7 years and underwent renal transplant. The other had aortic abnormalities and showed a partial response to steroid treatment.

Inheritance

The transmission pattern of NPHS13 in the family reported by Braun et al. (2016) was consistent with autosomal recessive inheritance.

Molecular Genetics

In 2 Turkish sibs with NPHS13, Braun et al. (2016) identified a homozygous missense mutation in the NUP205 gene (F1995S; 614352.0001). The mutation, which was found by genetic mapping and whole-exome sequencing, segregated with the disorder in the family. In vitro functional expression studies showed that the mutation abrogated the interaction of NUP205 with NUP93 (614351).