Open AccessA novel frameshift deletion in NAGLU causing sanfilipo type III ‐B in an Indian family
Author(s) -
Jain Sweta,
Chaitanya Vamsee,
Faruq Mohammed
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1844
Subject(s) - frameshift mutation , hepatosplenomegaly , medicine , hypotonia , missense mutation , chorea , genetics , mutation , biology , pediatrics , gene , disease
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.