Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of
18 novel 
-N-acetylglucosaminidase gene mutations
Susanna Bungea, Astrid Kniggea, Cordula Steglicha, Wim J Kleijerb, Otto P van Diggelenb, Michael Beckc, Andreas Gala
a Institut für
Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 42, 22529 Hamburg, Germany, b Department of Clinical
Genetics, University Hospital, Erasmus University, Rotterdam, The
Netherlands, c Universitäts-Kinderklinik, Mainz,
Germany
Correspondence to: Dr Bunge.
Received 25 March 1998;
Revised version accepted for publication 18 June 1998
Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo B
disease) is an autosomal recessive storage disorder caused by
deficiency of the lysosomal enzyme 
-N-acetylglucosaminidase.
Mutation screening was performed on a group of 22 patients using a
combination of SSCP/heteroduplex analysis of amplified genomic
fragments and direct sequencing of cDNA fragments. Twenty-one different
mutations were identified, 18 of them novel. Together they account for
82% of the disease alleles. The mutation spectrum consists of two small insertions, two small deletions, three nonsense mutations, and 14 different missense mutations, one of them (M1L) affecting the
initiation codon. The vast genetic heterogeneity seen in this disorder
is reflected by the fact that only three of the mutations were
identified in more than one patient.
Keywords: mucopolysaccharidosis type IIIB; Sanfilippo B disease; mutation screening;
-N-acetylglucosaminidase
© 1999 by J Med Genet
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