Sep 11, 2017
transformer 2 beta homolog
The TRA2B gene codes for proteins involved in splicing (Tacke et al., 1998)
A change in the TRA2B 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 TRA2B gene: c.19C>T /p.Gln7Ter.
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:
Interested in learning more about this gene or sharing what you know? Contact us!