Current study applied targeted NGS to Sanfilippo syndrome and reports a new frameshift variant (c.1294-1304 del CTCTTCCCCAA, p.432LeufsX25) in the NAGLU gene in a consanguineous family which subsequently validated by Sanger sequencing and in silico analysis of the putative variant. This evidence concerns the gene NAGLU and mucopolysaccharidosis type 3.