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A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine

Kenjiro Kosaki¹, Tsutomu Ogata, Rika Kosaki

¹Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@med.keio.ac.jp

Ophthalmic Genetics

|March 23, 2002

Summary

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an inherited eyelid disorder. A new mutation highlights the polyalanine tract

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Area of Science:

Genetics
Ophthalmology
Developmental Biology

Background:

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant genetic disorder.
BPES is characterized by congenital abnormalities affecting the eyelids.

Observation:

A 12-year-old girl with BPES presented with bilateral blepharophimosis, ptosis, hypertelorism, and downslanting palpebral fissures.
Genetic analysis identified a novel cytosine insertion (dup 1036C) in the FOXL2 gene.

Findings:

The dup 1036C mutation, affecting the polyalanine tract (residues 221-231), was identified in the patient.
Comparison with previous mutations suggests the polyalanine tract's involvement significantly influences BPES phenotypic outcomes.

Implications:

The polyalanine tract may play a distinct role in both eyelid development and ovarian function.
Further research is needed to establish genotype-based predictions for ovarian function in BPES patients.