2005 Fiscal Year Final Research Report Summary
ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy
| Project/Area Number |
15591858
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Okayama University |
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Principal Investigator |
MATSUO Toshihiko Okayama University, Graduate School of Medicine, Dentistry, Pharmaceutical Sciences, Associate Professor, 大学院・医歯薬学総合研究科, 助教授 (90211565)
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| Co-Investigator(Kenkyū-buntansha) |
OHTSUKI Hiroshi Okayama University, Graduate School of Medicine, Dentistry, Pharmaceutical Sciences, Professor, 大学院・医歯薬学総合研究科, 教授 (70093672)
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| Project Period (FY) |
2003 – 2005
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| Keywords | superior oblique muscle palsy / polymorphism / ARIX / PHOX2B / strabismus / congenital / epidemiology / prevalence |
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| Research Abstract |
To identify ARIX gene and PHOX2B gene polymorphisms in patients with congenital superior oblique muscle palsy, 3 exons of the ARIX gene and PHOX2B gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 31 patients with congenital superior oblique muscle palsy and in 54 normal individuals. A family with a father and one daughter each having congenital superior oblique muscle palsy was also included in this study. Eleven patients with congenital superior oblique muscle palsy had heterozygous nucleotide changes in the ARIX gene, including 4 patients reported on previously. One patient with atrophy of the superior oblique muscle had a new change of T-4G in the promoter region of the ARIX gene. The other 6 patients had a heterozygous nucleotide change of G153A in the 5'-untranslated region (UTR) of the exon 1 of the ARIX gene. These nucleotide changes of the ARIX gene, taken together, had a significant association with congenital superior oblique muscle palsy (P=0.0022). One patient and 5 patients had heterozygous nucleotide changes of A1106C and A1121C in exon 3 of the PHOX2B gene, respectively, while these changes were absent in the normal individuals. Two patients had both the G153A change in the 5'-UTR of exon 1 of the ARIX gene and the A1121C change in exon 3 of the PHOX2B gene. In conclusion, the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy.
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Research Products
(10 results)
