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

Martinez-Aguayo, A; Poggi, H; Cattani, A; Molina M.; Romeo, E; Lagos, M

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.

Más información

Título según WOS: A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
Título de la Revista: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volumen: 27
Número: 1-2
Editorial: WALTER DE GRUYTER GMBH
Fecha de publicación: 2014
Página de inicio: 181
Página final: 184
Idioma: English
DOI:

10.1515/jpem-2013-0219

Notas: ISI