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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 ( FOXL2 ) gene are one of the major genetic causes. As this study shows, there are many patients with BPES who do not have  FOXL2  mutations, as the screening results in all family members were negative. Using whole-exome sequence analysis, we discovered another possible mutational cause of BPES in integrin subunit beta 5 ( ITGB5 ). The  ITGB5  mutation (c.608T&gt;C, p.Ile203Thr) appears in the base sequence of all BPES +  patients in this family, and it appears to be a three-generation-inherited mutation. It can cause changes in base sequence and protein function, and there may be cosegregation of disease phenotypes.  ITGB5  is located on the long arm of chromosome three (3q21.2) and is close to the known pathogenic gene  FOXL2  (3q23). This study is the first to report  ITGB5  mutations in BPES, and we speculate that it may be directly involved in the pathogenesis of BPES or indirectly through the regulation of  FOXL2 .

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome