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
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author Jain, Sweta
Chaitanya, Vamsee
Faruq, Mohammed
author_facet Jain, Sweta
Chaitanya, Vamsee
Faruq, Mohammed
author_sort Jain, Sweta
collection PubMed
description 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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spelling pubmed-62931372018-12-18 A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family Jain, Sweta Chaitanya, Vamsee Faruq, Mohammed Clin Case Rep 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 NAGLU. This variant was predicted to cause the loss of TIM‐barrel and alpha‐helical region of NAGLU protein. John Wiley and Sons Inc. 2018-10-26 /pmc/articles/PMC6293137/ /pubmed/30564336 http://dx.doi.org/10.1002/ccr3.1844 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Jain, Sweta
Chaitanya, Vamsee
Faruq, Mohammed
A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
title A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
title_full A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
title_fullStr A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
title_full_unstemmed A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
title_short A novel frameshift deletion in NAGLU causing sanfilipo type III‐B in an Indian family
title_sort novel frameshift deletion in naglu causing sanfilipo type iii‐b in an indian family
topic Case Reports
url 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
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