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ID 30985
JaLCDOI
フルテキストURL
著者
Imai, Sayuri Okayama University
Matsuo, Toshihiko Okayama University ORCID Kaken ID publons researchmap
Itoshima, Emi Okayama University
抄録

We analyzed nucleotide changes in 3 genes, ARIX, PHOX2B, and KIF21A, in 6 patients of 3 families with congenital superior oblique muscle palsy. Three exons of ARIX, 3 exons of PHOX2B, and exons 8, 20, and 21 of KIF21A were amplified by polymerase chain reaction from genomic DNA isolated from the peripheral blood. The DNA fragments were directly sequenced in both directions. In 2 different families, a heterozygous nucleotide change, ARIX 153G>A, in the 5’-untranslated region was found in common between a father and daughter with muscle palsy and between a mother and daughter with muscle palsy (Family No. 1 and No. 3). In the other family (Family No. 2), a heterozygous 15-nucleotide deletion, PHOX2B 1124del15, resulting in loss of 5 alanine residues in the alanine repeat of the protein, was found in the daughter with muscle palsy and her father with normal traits, but was not found in the mother with muscle palsy. No KIF21A nucleotide change was found in any patients. The ARIX 153G>A polymorphism might be a genetic risk factor for the development of congenital superior oblique muscle palsy.

キーワード
ARIX
PHOX2B
KIF21A
congenital superior oblique muscle palsy
familial (hereditary) disease
Amo Type
Original Article
発行日
2008-02
出版物タイトル
Acta Medica Okayama
62巻
1号
出版者
Okayama University Medical School
開始ページ
45
終了ページ
53
ISSN
0386-300X
NCID
AA00508441
資料タイプ
学術雑誌論文
言語
English
論文のバージョン
publisher
査読
有り
PubMed ID
Web of Science KeyUT