A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.
OBJECTIVE
To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA).


METHODS
Case report and experimental study.


METHODS
Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family.


RESULTS
Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation.


CONCLUSIONS
A novel mutation, c.2848_2849delGA in OPA1, was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.
Chen
Suqin
S
Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, P.R. China.
Zhang
Yanling
Y
Wang
Yiming
Y
Li
Weili
W
Huang
Shuang
S
Chu
Xin
X
Wang
Lei
L
Zhang
Mei
M
Liu
Zuguo
Z
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006239:Haplotypes; D034381:Hearing Loss / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009216:Myopia / Q000235:genetics; D029241:Optic Atrophy, Autosomal Dominant / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human