ID | 115131 |
Title Alternative | Lowe syndrome caused by gloss deletion
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Author |
Watanabe, Miki
Tokushima University
Nakagawa, Ryuji
Tokushima University
Tokushima University Educator and Researcher Directory
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Kohmoto, Tomohiro
Tokushima University
Suga, Ken-ichi
Tokushima University
Tokushima University Educator and Researcher Directory
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Goji, Aya
Tokushima University
Kagami, Shoji
Tokushima University
Tokushima University Educator and Researcher Directory
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Content Type |
Journal Article
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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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Journal Title |
Human Genome Variation
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ISSN | 2054345X
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Publisher | Springer Nature
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Volume | 3
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Start Page | 16037
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Published Date | 2016-11-10
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Rights | 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/
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language |
eng
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departments |
University Hospital
Medical Sciences
Technical Support Department
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