Exome-first approach identified a novel gloss deletion associated with Lowe syndrome

Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequenci...

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Autores principales: Watanabe, Miki, Nakagawa, Ryuji, Kohmoto, Tomohiro, Naruto, Takuya, Suga, Ken-ichi, Goji, Aya, Horikawa, Hideaki, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103007/
https://www.ncbi.nlm.nih.gov/pubmed/27867521
http://dx.doi.org/10.1038/hgv.2016.37
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author Watanabe, Miki
Nakagawa, Ryuji
Kohmoto, Tomohiro
Naruto, Takuya
Suga, Ken-ichi
Goji, Aya
Horikawa, Hideaki
Masuda, Kiyoshi
Kagami, Shoji
Imoto, Issei
author_facet Watanabe, Miki
Nakagawa, Ryuji
Kohmoto, Tomohiro
Naruto, Takuya
Suga, Ken-ichi
Goji, Aya
Horikawa, Hideaki
Masuda, Kiyoshi
Kagami, Shoji
Imoto, Issei
author_sort Watanabe, Miki
collection PubMed
description Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.
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spelling pubmed-51030072016-11-18 Exome-first approach identified a novel gloss deletion associated with Lowe syndrome Watanabe, Miki Nakagawa, Ryuji Kohmoto, Tomohiro Naruto, Takuya Suga, Ken-ichi Goji, Aya Horikawa, Hideaki Masuda, Kiyoshi Kagami, Shoji Imoto, Issei Hum Genome Var Data Report Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci. Nature Publishing Group 2016-11-10 /pmc/articles/PMC5103007/ /pubmed/27867521 http://dx.doi.org/10.1038/hgv.2016.37 Text en Copyright © 2016 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Watanabe, Miki
Nakagawa, Ryuji
Kohmoto, Tomohiro
Naruto, Takuya
Suga, Ken-ichi
Goji, Aya
Horikawa, Hideaki
Masuda, Kiyoshi
Kagami, Shoji
Imoto, Issei
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
title Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
title_full Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
title_fullStr Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
title_full_unstemmed Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
title_short Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
title_sort exome-first approach identified a novel gloss deletion associated with lowe syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103007/
https://www.ncbi.nlm.nih.gov/pubmed/27867521
http://dx.doi.org/10.1038/hgv.2016.37
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