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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
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. |
format | Online Article Text |
id | pubmed-6293137 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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