Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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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 [^]
6.

OMIM.ORG article

Omim 606546 [^]
7.

Orphanet article

Orphanet ID 159723 [^]
8.

Wikipedia article

Wikipedia EN (HYMAI) [^]
Update: April 29, 2019