A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family. Issue 12 (26th October 2018)

• Record Type: Journal Article
• Authors: Jain, Sweta; Chaitanya, Vamsee; Faruq, Mohammed
• Is Part Of: Clinical case reports. Volume 6:Issue 12(2018)
• Page Start: 2399
• Page End: 2402
• Publication Date: 2018-10-26
• Subjects: MPS IIIB -- Mucopolysaccharidoses -- NAGLU; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1844
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. Abstract : 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.