title: A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
abstract: OBJECTIVE
  To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract.
  
  
  METHODS
  Linkage analysis was performed for the known candidate genes and whole-exome sequencing was used in two affected family members to screen for potential genetic mutations; Sanger sequencing was used to verify the mutations throughout family.
  
  
  RESULTS
  A novel beaded filament structural protein 1 (BFSP1) gene missense mutation was identified. Direct sequencing revealed a heterozygous G>A transversion at c.1042 of the coding sequence in exon 7 of BFSP1 (c.1042G>A) in all affected members, which resulted in the substitution of a wild-type aspartate to an asparagine (D348N). This mutation was neither seen in unaffected family members nor in 200 unrelated people as controls.
  
  
  CONCLUSIONS
  A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. This is the first report of autosomal dominant congenital cataract being associated with a mutation in BFSP1, highlighting the important role of BFSP1 for physiological lens function and optical properties.
authors.affiliation: Department of Ophthalmology, the Fourth Affiliated Hospital of China Medical University, Key Laboratory of Lens Research Liaoning Province, Eye Hospital of China Medical University, Liaoning Province, China.
authors.forename: Han
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, the Fourth Affiliated Hospital of China Medical University, Key Laboratory of Lens Research Liaoning Province, Eye Hospital of China Medical University, Liaoning Province, China.
authors.forename: Tianxiao
authors.initials: T
authors.lastname: Zhang
authors.affiliation: Department of Ophthalmology, the Fourth Affiliated Hospital of China Medical University, Key Laboratory of Lens Research Liaoning Province, Eye Hospital of China Medical University, Liaoning Province, China.
authors.forename: Di
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Ophthalmology, the Fourth Affiliated Hospital of China Medical University, Key Laboratory of Lens Research Liaoning Province, Eye Hospital of China Medical University, Liaoning Province, China.
authors.forename: Jinsong
authors.initials: J
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D044466:Asian People; D001216:Asparagine / Q000235:genetics / Q000378:metabolism; D001224:Aspartic Acid / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007908:Lens, Crystalline / Q000378:metabolism / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; C079098:filensin; D001224:Aspartic Acid; D001216:Asparagine