Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

CDGSH iron sulfur domain 2

Mutations in this gene cause autosomal recessive Wolfram syndrome type 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Wolfram syndrome 2
CISD2

References:

1.

El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.

external link
2.

Amr S et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

external link
3.

Chen YF et al. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.

external link
4.

OMIM.ORG article

Omim 604928 external link
5.

NCBI article

NCBI 493856 external link
6.

Orphanet article

Orphanet ID 166722 external link
7.

Wikipedia article

Wikipedia EN (CISD2) external link
Update: Aug. 14, 2020
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