title: Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.
abstract: OBJECTIVE
  To describe the clinical findings and results of molecular analysis in a Mexican family diagnosed with gelatinous drop-like corneal dystrophy (GDLD).
  
  
  METHODS
  Ophthalmological examination was performed in 1 unaffected and 4 affected relatives. Molecular analysis included polymerase chain reaction amplification and direct nucleotide sequencing of the entire TACSTD2 gene-coding region in genomic DNA.
  
  
  RESULTS
  The corneal phenotype in adult patients was characterized by white-yellow nodular lesions on the corneal surface and stromal neovascularization. Lesions were incipient in an affected relative aged 14 years. Nucleotide sequencing of the TACSTD2 gene demonstrated a homozygous c.331G>T transversion, which predicts a novel p.(E111*) nonsense mutation, in DNA of all 4 GDLD relatives.
  
  
  CONCLUSIONS
  Our results expand the mutational spectrum of TACSTD2 in patients with GDLD. To the best of our knowledge, this is the first clinical and molecular description of patients with GDLD from Latin America.
authors.affiliation: *Department of Cornea and Refractive Surgery, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico; †Florida Lions Ocular Pathology Laboratory, Miami, FL; ‡Genetics Department-Research Unit, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico; §Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico; and ¶Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL.
authors.forename: Jesus
authors.initials: J
authors.lastname: Cabral-Macias
authors.forename: Juan C
authors.initials: JC
authors.lastname: Zenteno
authors.forename: Arturo
authors.initials: A
authors.lastname: Ramirez-Miranda
authors.forename: Alejandro
authors.initials: A
authors.lastname: Navas
authors.forename: Jose A
authors.initials: JA
authors.lastname: Bermudez-Magner
authors.forename: Víctor M
authors.initials: VM
authors.lastname: Boullosa-Graña
authors.forename: Enrique O
authors.initials: EO
authors.lastname: Graue-Hernandez
authors.forename: Beatriz
authors.initials: B
authors.lastname: Buentello-Volante
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D028226:Amyloidosis, Familial / Q000175:diagnosis / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D018389:Codon, Nonsense; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D018389:Codon, Nonsense; C499380:TACSTD2 protein, human