Gene identified as cause of some forms of intellectual disability
In the same journal two other international research teams independently confirm the findings of
"Now that we have identified TRAPPC9 as a gene that may be associated with hundreds of thousands of cases of intellectual disability world-wide, we can build on that knowledge with research to help individuals and their families," says
May account for many cases of intellectual disability
Unlike intellectual disabilities that are part of a syndrome with other medical conditions or physical abnormalities, TRAPPC9 is associated with non-syndromic types of intellectual disability; these cause up to 50 per cent of intellectual disability worldwide. "The discovery announced today sheds light on a gene for intellectual disability on one of the non-sex chromosomes," says
Findings in two families
Because there are no highly recognizable physical differences that are associated with the non-syndromic intellectual disabilities, it is more difficult to tease out the genetic mutations that may cause them. But researchers and families themselves have long suspected an inherited factor, based on patterns observed in extended families. Families with many affected individuals, and particular families from cultures where cousin-cousin marriages are common, have become invaluable in the search for such genes, and with recent advances in technology it is now possible to map disease-causing genes in a single family.
Normal brain function
Future research may include studying how the gene is involved in normal brain function, as well as studying genes with similar functions as candidate genes for intellectual disability, and devising potential therapeutic strategies.
Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by diminished cognitive and adaptive development. Affecting more males than females, they are diagnosed in between one and three percent of the population.
The study, Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-Beta-Binding Protein in Nonsyndromic Autosomal-Recessive Mental Retardation, was funded by grants from the Ontario Ministry of Health and Long-Term Care and (US) NARSAD. For more, see: http://www.cell.com/AJHG/
The Centre for Addiction and Mental Health (CAMH) is Canada's largest mental health and addiction teaching hospital, as well as one of the world's leading research centres in the area of addiction and mental health. CAMH combines clinical care, research, education, policy development and health promotion to transform the lives of people affected by mental health and addiction issues.
CAMH is fully affiliated with the University of