Nephronophthisis 7

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NPHP3, INVS, NPHP1, NPHP4, GLIS2, NEK8, WDR19, ANKS6, TMEM67, TTC21B, XPNPEP3, AHI1, SLC41A1, ATXN10, CNTRL, WWTR1, TMEM218, CEP290, RPGRIP1L, IQCB1, DCDC2, TRAF3IP1, ZNF423, MAPKBP1, CEP164, SDCCAG8, IFT140, NPHP3-ACAD11, PKHD1, CC2D2A, DYNC2LI1, NPHP3-AS1, FAM186B, DYNC2H1, WDR34, TTC21B-AS1, IFT43, IFT80, TMEM216, WDR60, CEP120, INTU, PAM16, RBM48, CEP83, IFT172, PRPF40B, UMOD, FAN1, INCENP, PIAS1, MUC1, NXPH1, ANPEP, BCL2, MKS1, ACTN4, MKKS, MALL, CYS1, DAP, SLC22A12, ANKS3, SCLT1, PACRG, CTNNB1, GLIS3, COL4A1, TIMM8A, RCC1, CDK5, AATF, AVPR2, AGXT, LINC01672, ALDH3A2, ACE, FN1, WT1, IL1A, VIM, MLRL, TNF, ADAMTS9, RPGRIP1, TIMP2, HNF1B, HNF1A, SLC4A1, PAX2, TINAG, MLYCD, TCTN2, KIF3A, IL1B, CSPP1

Drugs

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A number sign (#) is used with this entry because of evidence that nephronophthisis-7 (NPHP7) is caused by homozygous mutation in the GLIS2 gene (608539) on chromosome 16p13.

For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100).

Clinical Features

Attanasio et al. (2007) reported a consanguineous Canadian Oji-Cree family in which 3 members had nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Kidney histology of all 3 affected individuals was consistent with the diagnosis.

Inheritance

The transmission pattern of NPHP7 in the family reported by Attanasio et al. (2007) was consistent with autosomal recessive inheritance.

Mapping

By genomewide linkage analysis, Attanasio et al. (2007) found significant linkage of nephronophthisis to a region on chromosome 16p in a consanguineous Canadian Oji-Cree family.

Molecular Genetics

In a Canadian Oji-Cree family with nephronophthisis, Attanasio et al. (2007) identified a homozygous mutation in the GLIS2 gene (608539.0001) that segregated with the disorder.

In a Turkish patient with isolated NPHP7, Halbritter et al. (2013) identified a homozygous mutation in the GLIS2 gene (C175R; 608539.0002). The patient was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. Functional studies of the variant were not performed.