Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Thre protein product of the GNE gene is involved in sialic acid modification on the cell surface. Mutation cause autosomal recessive or dominant disorders either French type sialuria or Nonaka myopathy.
Three autosomal recessive disorders are caused by mutation of the GNE gene. Mutations located in the sugar kinase domain cause Nonaka myopathy, in epimerase or kinase domain or both inclusion body myopathy, and epimerase domain sialuria.
| 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. |
Eisenberg I et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 
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| 2. |
Broccolini A et al. (2002) An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
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| 3. |
Seppala R et al. (1999) Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
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| 4. |
Leroy JG et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition.
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| 5. |
Orphanet article Orphanet ID 122207
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| 6. |
NCBI article NCBI 10020
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| 7. |
OMIM.ORG article Omim 603824
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| 8. |
Wikipedia article Wikipedia EN (GNE_(gene))
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