Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ZFP57 gene encodes a transcription factor. Mutations cause autosomal recessive transient neonatal diabetes mellitus type 1. Also a connection with hypomethylation syndrome is hypothesized.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Hypomethylation syndrome
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DNMT1
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DNMT3A
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DNMT3B
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KHDC3L
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MECP2
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NLRP2
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NLRP7
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Recurrent hydatidiform mole 1
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NLRP7
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Recurrent hydatidiform mole 2
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KHDC3L
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ZFP57
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| 1. |
Caliebe A et al. (2014) A familial disorder of altered DNA-methylation. 
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| 2. |
Boonen SE et al. (2008) Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
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| 3. |
Mackay DJ et al. (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
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| 4. |
OMIM.ORG article Omim 612192
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| 5. |
Orphanet article Orphanet ID 206724
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| 6. |
NCBI article NCBI 346171
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| 7. |
Wikipedia article Wikipedia EN (ZFP57)
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