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1. |
Our results confirm that GPR143 is the major locus for X_linked ocular albinism and that exon 2 is a region of high susceptibility to deletions. |
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2. |
A Chinese family with X-linked ocular albinism and partial deletion of GPR143, is reported. |
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3. |
Results suggest that this novel mutation in GPR143 is associated with the congenital nystagmus observed in this Chinese family. |
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The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon. |
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These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of OA1 among the Chinese. |
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6. |
Results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor. |
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7. |
Panretinal function in OA1 is within normal limits at all ages, consistent with previous reports in generalized albinism. |
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8. |
These results indicate that this novel GPR143 mutation is associated with the congenital nystagmus observed in this Chinese family. |
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9. |
eight new mutations located in the coding region of the gene are identified. |
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10. |
Two novel mutations in OA1 gene were identified in two families with ocular albinism. Identified mutations are likely loss-of-function mutations. Mutations in OA1 gene are associated with majority of X-linked ocular albinism cases. |
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11. |
Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. |
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12. |
No correlation was identified between congenital nystagmus and ocular albinism 1(OA1) gene. |
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13. |
Mutational analysis of the OA1 ocular albinism gene. |
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14. |
Review: mutational analysis in ocular albinism type 1 |
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15. |
OA1 has been immunologically characterized as an antigen that is expressed, processed, and presented in an MHC-restricted fashion by melanoma cells, but for which there is the human equivalent of a "knockout"--i.e., complete deletion in a male patient. |
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16. |
Mutations in the OA1 gene is associated with ocular albinism |