A novel frameshift deletion in NAGLU causing sanfilipo type III-B in an Indian family

Mucopolysaccharidoses are group of inherited lysosomal storage disorder. Two siblings of a family manifested behavioral abnormalities; hepatosplenomegaly and hypotonia of infantile onset were found to have a novel homozygous frameshift variation, p.Leu280TrpfsTer19 in NAGLU. This variant was predicted to cause the loss of TIM-barrel and alpha-helical region of NAGLU protein.