SGSH and mucopolysaccharidosis type 3A: Exome sequencing (NimbleGen SeqCap V2, Roche, Mannheim, Germany) followed by Illumina GAIIx paired-end sequencing for 2×76bp (Illumina, San Diego, CA, USA) uncovered a homozygous mutation c.416C > T, p.T139M in the SGSH gene causing mucopolysaccharidosis type IIIA, that is, Sanfilippo A syndrome.