title: GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
abstract: The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis.
authors.affiliation: 1] Tianjin Medical University, Tianjin, 300070, People's Republic of China [2] Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.
authors.forename: Ruifang
authors.initials: R
authors.lastname: Han
authors.affiliation: Ophthalmologic Department, Xuzhou Eye Institute, Xuzhou, Jiangsu Province, 221000, People's Republic of China.
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Wang
authors.affiliation: 1] Tianjin Medical University, Tianjin, 300070, People's Republic of China [2] Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.
authors.forename: Dongjie
authors.initials: D
authors.lastname: Wang
authors.affiliation: Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.
authors.forename: Liming
authors.initials: L
authors.lastname: Wang
authors.affiliation: Ophthalmologic Department, Jinan Central Hospital Affiliated to Shandong University, Jinan, Shandong Province, 250013, People's Republic of China.
authors.forename: Zhongfang
authors.initials: Z
authors.lastname: Yuan
authors.affiliation: Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.
authors.forename: Ming
authors.initials: M
authors.lastname: Ying
authors.affiliation: 1] Tianjin Medical University, Tianjin, 300070, People's Republic of China [2] Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D020417:Nystagmus, Congenital / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D016415:Sequence Alignment; D041623:Tomography, Optical Coherence
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; C516168:FRMD7 protein, human; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins