From a SWAN to Chopra-Amiel-Gordon Syndrome and the emergence of “-like” syndromes, CNTNAP2 etc
SWAN (Syndrome Without A Name) Today’s post is complicated, it is aimed at people who: · are interested in genetic testing for autism · are affected by miss-expression of the genes:- · ANKRD17 · TCF4 · CNTNAP2 · NRXN1 It is one of those posts that could go on forever; the more you dig, the more you uncover and you wonder why other people (salaried researchers) are not doing this. Today’s post is mainly about a gene called ANKRD17, but it does highlight more general principles about those genetic testing results, some parents strive to obtain. It does look at downstream effects of Pitt Hopkins Syndrome and “Pitt Hopkins-like Syndrome”, which likely merge into mainstream autism. Many single ...