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Journal of Pediatric Endocrinology and Metabolism

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A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I

Alejandro Martinez-Aguayo1, a / Helena Poggi2, a / Andreina Cattani1 / Marcela Molina1 / Eliana Romeo2 / 3

1Endocrinology Unit, Pediatric Division, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

2Molecular Biology Laboratory, Clinical Laboratory Department, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

3Laboratorio de Biología Molecular, Centro Médico San Joaquín, Vicuña Mackenna 4686, Macul, Santiago 6904413, Chile

aThese authors contributed equally to this work

Corresponding author: Marcela Lagos, MD, Laboratorio de Biología Molecular, Centro Médico San Joaquín, Vicuña Mackenna 4686, Macul, Santiago 6904413, Chile, Phone: +56 2 235 48515, Fax: +56 2 235 48603, E-mail:

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 27, Issue 1-2, Pages 181–184, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2013-0219, September 2013

Publication History

Received:
2013-05-31
Accepted:
2013-07-25
Published Online:
2013-09-13

Abstract

Objective: A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I). A clinical and molecular characterization of a patient with BPES type I was performed.

Method: We present a 16-year-old adolescent girl with surgically treated blepharophimosis, ptosis, and epicanthus inversus that was associated with delayed puberty and secondary amenorrhea at the age of 15, indicators that suggested that the patient had BPES type I. The FOXL2 gene was analyzed by sequencing its coding region.

Results: The sequence analysis of the FOXL2 gene revealed a novel heterozygous mutation: an 11 bp duplication (c.901_911dup11) that was predicted to encode a truncated protein (p.Pro305Argfs*54).

Conclusions: A novel out-of-frame duplication following the polyalanine domain in the FOXL2 gene was identified in a Chilean patient with BPES type I. This study characterized the molecular alterations in FOXL2 and confirmed the diagnosis, thereby providing information to allow for improved genetic counseling for the patient and her family.

Keywords: blepharophimosis; epicanthus inversus syndrome; forkhead transcription factor; premature ovarian failure; ptosis

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