title: Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation.
abstract: METHODS
  To report the case of a 26-year-old woman with a family history of dominant optic atrophy who requested DNA testing and counselling. Ophthalmologic examination showed her affected father had bilateral temporal papillary pallor. Direct genomic sequencing of the OPA1 gene revealed a novel heterozygous nonsense mutation (Arg879stop). Because no mutation in OPA1 was detected in the daughter, we could counsel her that the possibility was very low that she was a carrier or would pass the disease-causing gene to her children.
  
  
  CONCLUSIONS
  Our study provides evidence of the apparent value of molecular genetic analysis of OPA1 gene as predictive DNA testing, although the exact risk and benefit of this type of analysis awaits further study.
authors.affiliation: Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan. yosida@med.kyushu-u.ac.jp
authors.forename: Shigeo
authors.initials: S
authors.lastname: Yoshida
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yamaji
authors.forename: Ayako
authors.initials: A
authors.lastname: Yoshida
authors.forename: Rumi
authors.initials: R
authors.lastname: Kuwahara
authors.forename: Kimihiko
authors.initials: K
authors.lastname: Fujisawa
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Ishibashi
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis
chemical_list: D018389:Codon, Nonsense; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human