Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Karl Hackmann*, Sarah Matko, Eva Maria Gerlach, Maja Von Der Hagen, Barbara Klink, Evelin Schrock, Andreas Rump, Nataliya Di Donato

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

23 Citations (Scopus)

Abstract

We report about the partial de novo loss of GLRB and GRIA2 in an individual with intellectual disability (ID). No additional mutations were found in either gene. GLRB itself does not seem to be a good candidate as it causes autosomal recessive hyperekplexia and no symptoms were found in the patient. Mutations of GRIA2 have not been described as cause of ID to date. Nonetheless, it is a very attractive candidate because it encodes a subunit of a glutamate receptor, which is highly expressed in postsynaptic structures and has an important role in signal transduction across synapses. Although we were able to isolate a fragment of a fusion transcript of both genes from the patient's blood, we were not able to isolate a transcript with an open reading frame throughout the entire length. The reading frame could be restored by differential splicing, which might take place in brain tissue but not in blood. We assume that either haploinsufficiency of GRIA2 or a GLRB/GRIA2 fusion gene leading to a protein with dominant-negative properties is causing the phenotype of the patient.

Original languageEnglish
Pages (from-to)112-114
Number of pages3
JournalEuropean Journal of Human Genetics
Volume21
Issue number1
DOIs
Publication statusPublished - Jan 2013
Externally publishedYes

Keywords

  • GLRB
  • GRIA2
  • fusion gene
  • glutamate receptor
  • intellectual disability

Fingerprint

Dive into the research topics of 'Partial deletion of GLRB and GRIA2 in a patient with intellectual disability'. Together they form a unique fingerprint.

Cite this