TRA2B

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

transformer 2 beta homolog

Location
Chromosome 3 (3q27.2)


Function

The TRA2B gene codes for proteins involved in splicing (Tacke et al., 1998)

Database Links

GeneCards: GC03M185914

NCBI Gene: 6434

OMIM: 602719

UniProtKB/Swiss-Prot: P62995

Clinical Significance

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.

Gene TRA2B
Inheritance Pattern Autosomal dominant
Position Chr3:185655630
Transcript NM_004593.2
DNA Change c.19C>T
Protein Change 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:

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