title: Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.
abstract: Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshiftOCRLmutations. 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 entireOCRLgene and neighboring loci.
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Ryuji
authors.initials: R
authors.lastname: Nakagawa
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Ken-Ichi
authors.initials: KI
authors.lastname: Suga
authors.affiliation: Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Goji
authors.affiliation: 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.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Horikawa
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Masuda
authors.affiliation: Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Kagami
authors.affiliation: 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.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto