Our SAITO software currently has information about 1464 genes in 701 syndromes and 44 categories. What used to be called Asperger’s had two different syndromes (Asperger X-linked 1 and 2) and two different genes (NLGN3 and NLGN4X, respectively) – the category is awaiting a new name. In a similar manner but for much less sinister reasons, for the category Pervasive Developmental Delay the gene (GPX1) and its syndrome will likely be reclassified within the autism spectrum. The future classification of the 15 syndromes and 20 genes currently grouped in the Panic Phobia Anxiety category is under discussion – they may well be shifted to the autism spectrum. None of which is likely to matter much to people with these conditions.
Currently, after the arrive of two batches of candidates genes SAITO has information about 268 autism genes in 130 syndromes. There are currently seven genes awaiting further information. I was aware that several large scale studies from Asia, Africa and South America were still being completed, but it seemed that, to recycle a very ill-fated phrase, “the end of the tunnel was in sight”.
Two researchers disabused me of that naive notion by sending a quote from the US National Institutes of Health (NIH):
“Changes in over 1,000 genes have been reported to be associated with ASD, but a large number of these associations have not been confirmed.”