FOXL2 mutations in Blepharophimosis-Ptosis-Epicanthus inversus syndrome
https://doi.org/10.25557/2073-7998.2019.08.17-20
Abstract
Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a disease characterized by malformations of the eyelids: ptosis, blepharophimosis and the presence of a reverse epicant or telecant (BPES). This syndrome in women can be accompanied by a premature ovarian exhaustion syndrome and related infertility. This work summarizes the results of FOXL2 gene analysis for 24 patients from 19 unrelated families with an incoming diagnosis. Mutations were detected in 10 unrelated families
About the Authors
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. A. Demina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
L. A. Bessonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. S. Beskorovainaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Review
For citations:
Shchagina O.A., Demina N.A., Bessonova L.A., Beskorovainaya T.S., Polyakov A.V. FOXL2 mutations in Blepharophimosis-Ptosis-Epicanthus inversus syndrome. Medical Genetics. 2019;18(8):17-20. (In Russ.) https://doi.org/10.25557/2073-7998.2019.08.17-20
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