RESUMO
Mutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus inversus and telecanthus syndrome (BPES). The BPES syndrome is a rare autosomal dominant genetic disease characterized by eyelid malformations associated with premature ovarian failure (BPES type I) or not (BPES type II). The human FOXL2 protein (376 aa) contains a 100 amino-acid DNA-binding forkhead domain (residues 52-152) and a polyalanine tract (residues 221-234). In the present study, we report the molecular investigation of four affected members with BPES syndrome in a Tunisian consanguineous family. To identify the causative mutation, we performed a direct sequencing of the FOXL2 gene. The sequence analysis of the coding exon revealed a novel frameshift mutation g.1113 dup C, c.876 dup C, p.P292 Fs. The mutation is located downstream of the polyalanine tract and causes the protein extension to 532 aa. This study reports for the first time a novel frameshift mutation in two-generation consanguineous Tunisian family with BPES. Our results expand the spectrum of FOXL2 mutations.
Assuntos
Blefarofimose/genética , Blefaroptose/genética , Pálpebras/anormalidades , Fatores de Transcrição Forkhead/genética , Mutação da Fase de Leitura , Adulto , Sequência de Bases , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Éxons , Feminino , Proteína Forkhead Box L2 , Genes Dominantes , Humanos , Lactente , Masculino , Linhagem , Síndrome , TunísiaRESUMO
Keratitis occurring in renal transplant patients are often severe, with difficult management. We describe the case of a renal transplant patient, 44 year-old man, with history of recurrent herpetic keratitis, which developed an impending corneal perforation. Conjunctival smear showed the presence of amoebic cysts. Anti-amoebic treatment was undertaken in addition with oral aciclovir, and a therapeutic penetrating keratoplasty was performed. An ulceration of the graft occurred within five months. Ocular samples showed the presence of Candida albicans. Despite aggressive antifungal therapy, he required a second therapeutic penetrating keratoplasty for graft perforation. One month later, we noted a recurrence of the ulcer with corneal thinning which evolved to perforation.
