title: Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
abstract: Congenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a large Chinese family with nystagmus as a prominent and consistent manifestation phenotype in nine patients to map and identify a disease-causing gene for nystagmus. X-linked recessive inheritance was observed in the family, and foveal hypoplasia was detected in some of the nine patients. The disease gene was mapped to an approximately 10.6 Mb region flanked by DXS996 and DXS7593 on Xp22 with a significant peak multipoint LOD score. Analysis of 21 candidate genes in the region revealed a novel p.S89F mutation in the second transmembrane domain of GPR143, a G protein-coupled receptor which causes ocular albinism when mutated. All male patients in the family were hemizygous for the mutation; the female carriers were heterozygous for the mutation. The p.S89F mutation was not identified in 100 normal females or 100 normal males. Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. These results expand the spectrum of clinical phenotypes associated with GPR143 mutations.
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, People's Republic of China.
authors.forename: Jing Yu
authors.initials: JY
authors.lastname: Liu
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, People's Republic of China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Ren
authors.affiliation: Development of Proof-Testing, Renmin Hospital of Tanghe, Tanghe, Henan, People's Republic of China.
authors.forename: Xiufeng
authors.initials: X
authors.lastname: Yang
authors.affiliation: Development of Proof-Testing, Renmin Hospital of Tanghe, Tanghe, Henan, People's Republic of China.
authors.forename: Tangying
authors.initials: T
authors.lastname: Guo
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, People's Republic of China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Yao
authors.affiliation: Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic/NE40, Cleveland, OH, 44195, USA.
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, People's Republic of China.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Dai
authors.affiliation: Department of Ophthalmology, Union Hospital, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
authors.forename: Mingchang
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Eye Center, Peking University, Beijing, People's Republic of China.
authors.forename: Lejin
authors.initials: L
authors.lastname: Wang
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, People's Republic of China. lium@mail.hust.edu.cn.
authors.forename: Mugen
authors.initials: M
authors.lastname: Liu
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, People's Republic of China. qkwang@mail.hust.edu.cn.|Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic/NE40, Cleveland, OH, 44195, USA. qkwang@mail.hust.edu.cn.
authors.forename: Qing K
authors.initials: QK
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins