Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.
OBJECTIVE
To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA).


METHODS
The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family.


RESULTS
A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents.


CONCLUSIONS
A novel de novo mutation in CRX was found in a Japanese patient with LCA.
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Japan. makonaka@med.nagoya-u.ac.jp
Makoto
M
Nakamura
Sei
S
Ito
Yozo
Y
Miyake
D000293:Adolescent; D001766:Blindness / Q000235:genetics*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D015534:Trans-Activators / Q000235:genetics*; D014792:Visual Acuity
D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein