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

Miki Watanabe; Ryuji Nakagawa; Tomohiro Kohmoto; Takuya Naruto; Ken-Ichi Suga; Aya Goji; Hideaki Horikawa; Kiyoshi Masuda; Shoji Kagami; Issei Imoto

doi:10.1038/hgv.2016.37

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

Hum Genome Var. 2016 Nov 10:3:16037. doi: 10.1038/hgv.2016.37. eCollection 2016.

Authors

Affiliations

¹ Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
² Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
³ Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan; Support Center for Advanced Medical Sciences, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

Abstract

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.