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Eduardo Silva, Jun-Ming Yang, Yingying Li, Sharola Dharmaraj, Olof H. Sundin, Irene H. Maumenee; A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype. Invest. Ophthalmol. Vis. Sci. 2000;41(8):2076-2079. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To identify and characterize new cone rod homeobox (CRX)
mutations associated with the Leber congenital amaurosis phenotype.
methods. The human CRX gene was sequenced in 74 consecutive patients
carrying the diagnosis of Leber congenital amaurosis.
results. Two mutations were identified in CRX that cause frameshifts
and predict severe truncations of the encoded protein. One of these, a
1-bp insertion, spares only nine N-terminal amino acids, removing the
homeodomain, WSP motif, and conserved OTX domain at the C terminus. Of
the CRX mutations described in the literature, this
is the first that convincingly represents a null allele of the gene.
Although the patient heterozygous for this null allele is affected with
Leber congenital amaurosis, it was surprising that her father, who had
normal vision, was heterozygous for the same mutation.
conclusions. These results strongly suggest that haploinsufficiency of CRX is not
sufficient to cause a retinal disorder. Loss of function alleles of CRX
appear to cause Leber congenital amaurosis through a recessive or
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