title: Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.
abstract: OBJECTIVE
  Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN.
  
  
  METHODS
  Prospective analysis.
  
  
  METHODS
  Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. Mutational analysis and co-segregation confirmation were then performed.
  
  
  METHODS
  All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University.
  
  
  RESULTS
  Two mutations in the FRMD7 gene, including one novel nonsense mutation (c.1090C>T, p.Q364X) and one reported missense mutation (c.781C>G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in FRMD7 or GPR143 in any of the sporadic cases.
  
  
  CONCLUSIONS
  The results suggest that mutations in FRMD7 appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus.
authors.affiliation: Wenzhou People's Hospital, The Third Clinical Institute Affiliated to Wenzhou Medical University, Wenzhou Medical University, Wenzhou, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhao
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Huang
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Zhi-Li
authors.initials: ZL
authors.lastname: Zheng
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Wen-Li
authors.initials: WL
authors.lastname: Deng
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Xin-Lan
authors.initials: XL
authors.lastname: Lei
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Dong-Jun
authors.initials: DJ
authors.lastname: Xing
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Ye
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Su-Zhong
authors.initials: SZ
authors.lastname: Xu
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Chen
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Zhang
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Xin-Ping
authors.initials: XP
authors.lastname: Yu
authors.affiliation: The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D020417:Nystagmus, Congenital / Q000175:diagnosis / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000235:genetics*; D011446:Prospective Studies
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; C516168:FRMD7 protein, human; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins
keywords: FRMD7 gene; novel mutations; nystagmus