TSC1 and tuberous sclerosis: Other mutations included those affecting genes associated with neurofibromatosis type 1 (NF1, 17q11.2), tuberous sclerosis (TSC1, 9q34), Aicardi syndrome (unspecified), and chromosomal abnormalities such as deletions involving TBL1XR1 (chromosome 3) and JARID2 (chromosome 6), a duplication on chromosome 16, and recurrent microduplications affecting 18 genes on chromosome 19.