title: Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.
abstract: OBJECTIVE
  To identify the spectrum and frequency of five candidate genes in Chinese patients with congenital ectopia lentis (EL).
  
  
  METHODS
  Forty consecutive and unrelated congenital probands with EL were collected and underwent ocular, skeletal, and cardiovascular examinations. Sanger sequencing was used to analyze all of the coding and adjacent regions of five candidate genes: FBN1, ADAMTS10, ADAMTSL4, TGFBR2, and CBS. Mutation analysis was performed to evaluate the pathogenic variants and to identify the cause of congenital EL.
  
  
  RESULTS
  The FBN1 gene screen revealed 25 pathogenic variants in 34 of the 40 families with congenital EL, including three novel (c.1955G>T, c.2222delA, and c.4381T>C) and 22 known mutations. The ADAMTSL10 gene screen revealed a compound heterozygous variant (c.1586G>A and c.2485T>A) in a family with Weill-Marchesani syndrome (WMS). In the remaining five probands, no pathogenic variant was detected in any of the five screened genes.
  
  
  CONCLUSIONS
  In this study, we identified three novel and 22 known mutations in FBN1 in 34 of 40 EL families. The results expand the mutation spectrum of the FBN1 gene and suggest that FBN1 mutations may be the major cause of congenital EL in Chinese patients.
authors: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
authors: Jie
authors: J
authors: Li
authors: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
authors: Xiaoyun
authors: X
authors: Jia
authors: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
authors: Shiqiang
authors: S
authors: Li
authors: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
authors: Shaohua
authors: S
authors: Fang
authors: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
authors: Xiangming
authors: X
authors: Guo
mesh_terms: D051722:ADAM Proteins / Q000235:genetics; D000071096:ADAMTS Proteins; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004479:Ectopia Lentis / Q000235:genetics*; D005190:Family; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult; D054392:Adipokines
chemical_list: D051722:ADAM Proteins; D000071096:ADAMTS Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C494614:ADAMTS10 protein, human