Abstract
Case report: 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. Comments: 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.
| Original language | English |
|---|---|
| Pages (from-to) | 614-616 |
| Number of pages | 3 |
| Journal | Canadian Journal of Ophthalmology |
| Volume | 41 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Oct 2006 |
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All Science Journal Classification (ASJC) codes
- Ophthalmology
Cite this
Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation. / Yoshida, Shigeo; Yamaji, Yoko; Yoshida, Ayako; Kuwahara, Rumi; Fujisawa, Kimihiko; Ishibashi, Tatsuro.
In: Canadian Journal of Ophthalmology, Vol. 41, No. 5, 10.2006, p. 614-616.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation
AU - Yoshida, Shigeo
AU - Yamaji, Yoko
AU - Yoshida, Ayako
AU - Kuwahara, Rumi
AU - Fujisawa, Kimihiko
AU - Ishibashi, Tatsuro
PY - 2006/10
Y1 - 2006/10
N2 - Case report: 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. Comments: 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.
AB - Case report: 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. Comments: 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.
UR - http://www.scopus.com/inward/record.url?scp=33750412235&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33750412235&partnerID=8YFLogxK
U2 - 10.1016/S0008-4182(06)80034-7
DO - 10.1016/S0008-4182(06)80034-7
M3 - Article
C2 - 17016536
AN - SCOPUS:33750412235
VL - 41
SP - 614
EP - 616
JO - Canadian Journal of Ophthalmology
JF - Canadian Journal of Ophthalmology
SN - 0008-4182
IS - 5
ER -