On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

Sep 11, 2017

Full Name

MGA, MAX dimerization protein

Chromosome 15 (15q15.1)


The MGA gene codes for a protein that represses and activates transcription (Hurlin et al., 1999).

Database Links

GeneCards: GC15P041621

NCBI Gene: 23269

OMIM: 616061

UniProtKB/Swiss-Prot: Q8IWI9

Clinical Significance

A change in the MGA gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, a 4 year old male with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate) was found to carry the following genetic change in the MGA gene: c.7982G>T/ p.Gly2661Val.

Gene MGA
Inheritance Pattern Autosomal dominant
Position Chr15:42058262
Transcript NM_01164273.1
DNA Change c.7982G>T
Protein Change p.Gly2661Val

The patient met all of his milestones until the age of 4 months when he stopped progressing. At 6 months, he began to have infantile spasms and high levels of alanine and lactate were found in his blood (hyperalaninemia and increased serum lactate). The spasms stopped a few months later after starting a second round of ACTH therapy. His lactate and alanine levels are well controlled on a low carbohydrate, high fat diet.

The patient started walking at 18 months of age and had some trouble speaking (speech apraxia). He has been making progress over time and is a very social boy.

Some of his other features include:

  • Low muscle tone (generalized hypotonia)
  • Acid accumulation in the body (metabolic acidosis)
  • Sensory impairment
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