Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation.
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.
Yoshida
Shigeo
S
Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan. yosida@med.kyushu-u.ac.jp
Yamaji
Yoko
Y
Yoshida
Ayako
A
Kuwahara
Rumi
R
Fujisawa
Kimihiko
K
Ishibashi
Tatsuro
T
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
D018389:Codon, Nonsense; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human