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

Research paper by Sweta S Jain, Vamsee V Chaitanya, Mohammed M Faruq

Indexed on: 20 Dec '18Published on: 20 Dec '18Published in: Clinical Case Reports


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 . This variant was predicted to cause the loss of TIM-barrel and alpha-helical region of protein.