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
N1 - Funding Information:
This work was supported in part by grants from the Ministry of Education, Science, Sports and Culture, Japan (T.I. and S.Y.), Japan National Society for the Prevention of Blindness (S.Y.), Japanese Retinitis Pigmentosa Society (S.Y.), and Clinical Research Foundation (S.Y.).
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 - Transactions of the Canadian Ophthalmological Society
JF - Transactions of the Canadian Ophthalmological Society
SN - 0008-4182
IS - 5
ER -