JaLCDOI 10.18926/AMO/31966
FullText URL fulltext.pdf
Author Jiang, Yan| Matsuo, Toshihiko| Fujiwara, hirotake| Hasebe, Satoshi| Ohtsuki, Hiroshi| Yasuda, Tatsuji|
Abstract <p>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 A1106 C and A1121 C 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 A1121 C 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.</p>
Keywords congenital superior oblique muscle palsy congenital fibrosis of the extraocular muscles (CFEOM) ARIX PHOX2B polymorphism
Amo Type Article
Published Date 2005-04
Publication Title Acta Medica Okayama
Volume volume59
Issue issue2
Publisher Okayama University Medical School
Start Page 55
End Page 62
ISSN 0386-300X
NCID AA00508441
Content Type Journal Article
language 英語
File Version publisher
Refereed True
PubMed ID 16049556
Web of Sience KeyUT 000228590000004