FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.

Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype-phenotype correlations between them. This study is aimed to find possible mutations of FOXL2 gene in a Chinese family with type II BPES by using DNA sequencing and to further clarify genotype-phenotype correlations between FOXL2 mutations and BPES by using a systematic statistical method, namely Multifactor Dimensionality Reduction (MDR). A novel mutation (g.933_965dup) which could result in an expansion of the polyalanine (polyAla) tract was detected in all patients of this family. MDR analysis for intragenic mutations of FOXL2 gene reported in previous BPES studies indicated that the mutations which led to much stronger disturbance of amino acid sequence were responsible for more type I BPES, while other kinds of mutation were responsible for more type II BPES. In conclusion, the present study found a novel FOXL2 gene mutation in a Chinese BPES family and a new general genotype-phenotype correlation tendency between FOXL2 intragenic mutations and BPES, both of which expanded the knowledge about FOXL2 gene and BPES.

[Reconstruction of orbital floor defect with polylacticglycolide acid/recombinant human bone morphogenetic protein 2 compound implanted material in sheep].

OBJECTIVE: To study the effect and safety of polylacticglycolide acid copolymer (PLGA) and recombinant human bone morphogenetic protein 2 (rhBMP-2) as implanted biomaterials for reconstruction orbital floor defects in sheep and find the relationship between implant materials degradation and orbital floor defects restoration. METHODS: Nine sheep (eighteen eyes) with orbital floor defect were divided into three groups randomly. Group A was the control without treatment. Group B was treated with PLGA and group C was received PLGA/rhBMP-2. Cosmetic appearances and complications were observed after surgery. CT scan, 3D reconstruction, defect area measurement and histological examination were performed on a week, three months and six months after operation. RESULTS: No complication was observed. The CT examinations showed that orbital floor defect in group C was almost disappeared by six months, however in group A and group B only partially orbital floor defect was repaired. Histological examinations showed that all materials were absorbed on six months. The orbit defects in group A were replaced by fiber tissue. The defect areas in group B were consisted of bone tissue in the peripheral and fiber tissue in the center. In group C the reconstructed areas were replaced by bone tissue, loose connective tissue and mucosal epithelia layers. CONCLUSION: The thick of 0.5 mm PLGA/rhBMP-2 sheet is a good substitute material of bone graft and may be used for orbital fracture defect reconstruction in clinic in the future.