A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid

Kenjiro Kosaki, Tsutomu Ogata, Rika Kosaki, Seiji Sato, Nobutake Matsuo

研究成果: Article査読

20 被引用数 (Scopus)

抄録

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids. We herein report a 12-year-old girl with BPES who had bilateral blepharophimosis, ptosis, hypertelorism, and downslanting palpebral fissures. Mutation analysis revealed the insertion of a cytosine (dup 1036C) within a wild-type run of six cytosines. A comparison of the phenotypic outcomes of the previously described mutations and the dup 1036C mutation reported herein suggest that the outcome is largely dependent on the involvement of the polyalanine tract (residues 221 to 231). We suggest that the polyalanine tract may have a differential role in eyelid and ovarian development and function. Further work is required to clarify whether ovarian function can be predicted on the basis of genotype.

本文言語English
ページ(範囲)43-47
ページ数5
ジャーナルOphthalmic Genetics
23
1
DOI
出版ステータスPublished - 2002 4月 10

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 眼科学
  • 遺伝学(臨床)

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