Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hydatidiform mole-associated and imprinted transcript

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.

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 Methylation test
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

References:

1.

Arima T et al. (2001) A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

external link
2.

Mackay DJ et al. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.

external link
3.

Arima T et al. (2006) The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.

external link
4.

Arima T et al. (2000) A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.

external link
5.

NCBI article

NCBI 57061 external link
6.

OMIM.ORG article

Omim 606546 external link
7.

Orphanet article

Orphanet ID 159723 external link
8.

Wikipedia article

Wikipedia EN (HYMAI) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues