title: A FRMD7 variant in a Japanese family causes congenital nystagmus.
abstract: Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, The University of Tokushima, Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Nana
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Japanese Red Cross Tokushima Hinomine Rehabilitation Center for People with Disabilities , Tokushima, Japan.
authors.forename: Shigeko
authors.initials: S
authors.lastname: Satomura
authors.affiliation: Department of Stress Science, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Takahide
authors.initials: T
authors.lastname: Komori
authors.affiliation: Japanese Red Cross Tokushima Hinomine Rehabilitation Center for People with Disabilities , Tokushima, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Hashimoto
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto