Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Th KCNJ10 gene encodes a member of the inward rectifier-type potassium channel family. Its presence in the kidney and in the central nervous system accounts for the comples symptoms of the EAST syndrome, an autosomal recessive disease caused by mutations of that gene.
| 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 |
| 1. |
Neusch C et al. (2001) Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. 
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| 2. |
Rozengurt N et al. (2003) Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.
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| 3. |
Scholl UI et al. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
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| 4. |
Bockenhauer D et al. (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
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| 5. |
Djukic B et al. (2007) Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation.
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| 6. |
Doupnik CA et al. (1995) The inward rectifier potassium channel family.
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| 7. |
Takumi T et al. (1995) A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells.
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| 8. |
Tada Y et al. (1997) Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1.
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| 9. |
NCBI article NCBI 3766
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| 10. |
OMIM.ORG article Omim 602208
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| 11. |
Orphanet article Orphanet ID 189344
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| 12. |
Wikipedia article Wikipedia EN (KCNJ10)
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