Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The HYMAI gene encodes a transcription factor. It shares the promotor with the PLAGL1 gene, which is maternally imprinted. Loss of imprinting results in an overexpression of the gene, and a transient neonatal diabetes mellitus ensues.
| 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 | Methylation test |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Arima T et al. (2001) A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. 
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| 2. |
Mackay DJ et al. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.
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| 3. |
Arima T et al. (2006) The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.
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| 4. |
Arima T et al. (2000) A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.
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| 5. |
NCBI article NCBI 57061
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| 6. |
OMIM.ORG article Omim 606546
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| 7. |
Orphanet article Orphanet ID 159723
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| 8. |
Wikipedia article Wikipedia EN (HYMAI)
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