New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sister...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Guoqing, Cao, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Report Published Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099373/
https://www.ncbi.nlm.nih.gov/pubmed/29058386
http://dx.doi.org/10.1002/ppul.23760
_version_ 1783348650440654848
author Zhang, Guoqing
Cao, Ling
author_facet Zhang, Guoqing
Cao, Ling
author_sort Zhang, Guoqing
collection PubMed
description Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM‐CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects.
format Online
Article
Text
id pubmed-6099373
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-60993732018-08-24 New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance Zhang, Guoqing Cao, Ling Pediatr Pulmonol Case Report Published Online Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM‐CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects. John Wiley and Sons Inc. 2017-10-23 2017-11 /pmc/articles/PMC6099373/ /pubmed/29058386 http://dx.doi.org/10.1002/ppul.23760 Text en © 2017 The Authors. Pediatric Pulmonology Published by Wiley Periodicals. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report Published Online
Zhang, Guoqing
Cao, Ling
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
title New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
title_full New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
title_fullStr New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
title_full_unstemmed New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
title_short New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
title_sort new mutations in the slc7a7 gene of two chinese sisters with lysinuric protein intolerance
topic Case Report Published Online
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099373/
https://www.ncbi.nlm.nih.gov/pubmed/29058386
http://dx.doi.org/10.1002/ppul.23760
work_keys_str_mv AT zhangguoqing newmutationsintheslc7a7geneoftwochinesesisterswithlysinuricproteinintolerance
AT caoling newmutationsintheslc7a7geneoftwochinesesisterswithlysinuricproteinintolerance

Ejemplares similares