title: A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
abstract: OBJECTIVE
  To report a unique transforming-growth-factor-β-induced (TGFBI) gene phenotype with Arg124Leu mutation in an Indian family.
  
  
  METHODS
  A family with 5 affected members presented to our hospital and were clinically diagnosed as suffering from Bowman layer dystrophy after examination. Peripheral blood samples were collected in EDTA from all for genomic DNA isolation. Keratoplasty was performed in 2 patients followed by histopathological evaluation of the cornea. DNA was subjected to PCR amplification of TGFBI and tumor-associated calcium signal transducer 2 (TACSTD2) genes followed by direct sequencing of all coding exons to identify the causative mutations.
  
  
  RESULTS
  Slitlamp examination of the cornea revealed superficial reticular opacities with diffuse anterior stromal haze suggestive of Bowman layer dystrophy but histopathological examination revealed the presence of both hyaline and amyloid deposits in the cornea. TGFBI sequencing revealed a heterozygous mutation, Arg124Leu (c.418 G→T) in all the affected members while TACSTD2 did not show any changes.
  
  
  CONCLUSIONS
  Molecular analysis established the diagnosis of a novel TGFBI variant with Arg124Leu mutation. The presence of lattice- like lines clinically and histopathological demonstration of both amyloid and hyaline deposits with the occurrence of Arg124Leu mutation in all the affected family members are an unusual phenomenon and are here described for the first time.
authors: Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
authors: Preeti
authors: P
authors: Paliwal
authors: Jaya
authors: J
authors: Gupta
authors: Radhika
authors: R
authors: Tandon
authors: Seema
authors: S
authors: Kashyap
authors: Seema
authors: S
authors: Sen
authors: Aditi
authors: A
authors: Agarwal
authors: Ramendra
authors: R
authors: Bakshi
authors: Arundhati
authors: A
authors: Sharma
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D004252:DNA Mutational Analysis; D005190:Family; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D058225:Plaque, Amyloid / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1