ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

Y. Jiang, Toshihiko Matsuo, H. Fujiwara, S. Hasebe, H. Ohtsuki, T. Yasuda

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Aim: To identify ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy and to find the relation between the ARIX gene and congenital superior oblique muscle palsy. Methods: The three exons of the ARIX gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 15 patients with superior oblique muscle palsy (13 with congenital and two with acquired palsy) and 54 normal individuals. PCR products cloned into plasmids were also sequenced. A family with father and a daughter each having congenital superior oblique muscle palsy was also involved in this study. Results: Four patients with congenital superior oblique muscle palsy carried heterozygous nucleotide changes in the ARIX gene. One patient with the absence of the superior oblique muscle had T7C in the 5′-UTR of the exon 1 and C-44A in the promoter region, both of which were located on the same strand. Another unrelated patient with congenital superior oblique muscle palsy had C76G in the 5′-UTR of the exon 1 and C-9A in the promoter region on the same strand. G153A in the 5′-UTR of exon 1 was found in common in two affected members of a family with congenital superior oblique muscle palsy. This G153A in the 5′-UTR of exon 1 was also present in four unrelated normal individuals. No other heterozygous nucleotide changes were found in normal individuals. Conclusions: The nucleotide change (G153A) in the 5′-UTR of exon 1 co-segregated with congenital superior oblique muscle palsy in one family. Four other nucleotide changes in the exon 1 or the promoter region were found only in patients with congenital superior oblique muscle palsy. These nucleotide polymorphisms may be one of the risk factors for the development of congenital superior oblique muscle palsy.

Original languageEnglish
Pages (from-to)263-267
Number of pages5
JournalBritish Journal of Ophthalmology
Volume88
Issue number2
DOIs
Publication statusPublished - Feb 2004

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Oculomotor Muscles
Paralysis
Exons
5' Untranslated Regions
Genes
Nucleotides
Genetic Promoter Regions
Polymerase Chain Reaction
Nuclear Family
Fathers

ASJC Scopus subject areas

  • Ophthalmology

Cite this

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy. / Jiang, Y.; Matsuo, Toshihiko; Fujiwara, H.; Hasebe, S.; Ohtsuki, H.; Yasuda, T.

In: British Journal of Ophthalmology, Vol. 88, No. 2, 02.2004, p. 263-267.

Research output: Contribution to journalArticle

Jiang, Y. ; Matsuo, Toshihiko ; Fujiwara, H. ; Hasebe, S. ; Ohtsuki, H. ; Yasuda, T. / ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy. In: British Journal of Ophthalmology. 2004 ; Vol. 88, No. 2. pp. 263-267.
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abstract = "Aim: To identify ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy and to find the relation between the ARIX gene and congenital superior oblique muscle palsy. Methods: The three exons of the ARIX gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 15 patients with superior oblique muscle palsy (13 with congenital and two with acquired palsy) and 54 normal individuals. PCR products cloned into plasmids were also sequenced. A family with father and a daughter each having congenital superior oblique muscle palsy was also involved in this study. Results: Four patients with congenital superior oblique muscle palsy carried heterozygous nucleotide changes in the ARIX gene. One patient with the absence of the superior oblique muscle had T7C in the 5′-UTR of the exon 1 and C-44A in the promoter region, both of which were located on the same strand. Another unrelated patient with congenital superior oblique muscle palsy had C76G in the 5′-UTR of the exon 1 and C-9A in the promoter region on the same strand. G153A in the 5′-UTR of exon 1 was found in common in two affected members of a family with congenital superior oblique muscle palsy. This G153A in the 5′-UTR of exon 1 was also present in four unrelated normal individuals. No other heterozygous nucleotide changes were found in normal individuals. Conclusions: The nucleotide change (G153A) in the 5′-UTR of exon 1 co-segregated with congenital superior oblique muscle palsy in one family. Four other nucleotide changes in the exon 1 or the promoter region were found only in patients with congenital superior oblique muscle palsy. These nucleotide polymorphisms may be one of the risk factors for the development of congenital superior oblique muscle palsy.",
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