ARIX Gene Polymorphisms in Patients with Congenital Superior Oblique Muscle Palsy

Overview

Journal Br J Ophthalmol

Specialty Ophthalmology

Date 2004 Jan 23

PMID 14736788

Citations 8

Authors

Y Jiang

T Matsuo

H Fujiwara

S Hasebe

H Ohtsuki

T Yasuda

Affiliations

Soon will be listed here.

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.

Citing Articles

Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy.

Matsuo T, Hamasaki I, Kamatani Y, Kawaguchi T, Yamaguchi I, Matsuda F Int J Mol Sci. 2024; 25(13).

PMID: 39000095 PMC: 11241339. DOI: 10.3390/ijms25136986.

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.

Xia W, Wei Y, Wu L, Zhao C Children (Basel). 2022; 9(11).

PMID: 36360333 PMC: 9688911. DOI: 10.3390/children9111605.

Candidate Genes in Testing Strategies for Linkage Analysis and Bioinformatic Sorting of Whole Genome Sequencing Data in Three Small Japanese Families with Idiopathic Superior Oblique Muscle Palsy.

Matsuo T, Chaomulige , Miyaji M, Hosoya O, Saito A, Nakazono K Int J Mol Sci. 2022; 23(15).

PMID: 35955756 PMC: 9369257. DOI: 10.3390/ijms23158626.

The Effects of Modified Graded Recession, Anteriorization and Myectomy of Inferior Oblique Muscles on Superior Oblique Muscle Palsy.

Huang Y, Chen J, Wu M, Tien P, Tsui Y, Hsieh Y J Clin Med. 2021; 10(19).

PMID: 34640450 PMC: 8509579. DOI: 10.3390/jcm10194433.

and are candidate genes for comitant strabismus susceptibility in Japanese patients.

Zhang J, Matsuo T PeerJ. 2017; 5:e3935.

PMID: 29062608 PMC: 5649647. DOI: 10.7717/peerj.3935.

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