Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Zinc finger protein 57

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.

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
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Transient neonatal diabetes mellitus 1
HYMAI
PLAGL1
ZFP57
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

1.

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

external link
2.

Boonen SE et al. (2008) Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

external link
3.

Mackay DJ et al. (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

external link
4.

OMIM.ORG article

Omim 612192 external link
5.

Orphanet article

Orphanet ID 206724 external link
6.

NCBI article

NCBI 346171 external link
7.

Wikipedia article

Wikipedia EN (ZFP57) external link
Update: Aug. 14, 2020
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