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

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)43-47
Number of pages5
JournalOphthalmic Genetics
Volume23
Issue number1
DOIs
Publication statusPublished - 2002 Apr 10

Keywords

  • Blepharophimosis
  • FOXL2
  • Mutation
  • Polyalanine tract

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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