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 predict...

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Detalles Bibliográficos
Autores principales: Jain, Sweta, Chaitanya, Vamsee, Faruq, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293137/
https://www.ncbi.nlm.nih.gov/pubmed/30564336
http://dx.doi.org/10.1002/ccr3.1844
Descripción
Sumario: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.

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