Here I present: Blepharophimosis-ptosis Epicanthus-inversus Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (BPES) icd10=H02.5
INTRODUCTION.
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a medical anomaly characterized by the conditions it is named after: blepharophimosis, ptosis and epicanthus-inversus.
There are two types; type-1 is distinguished from type-2 by including the symptom of premature ovarian insufficiency in females, which causes menopausal symptoms and infertility in patients as young as 15 years old.
BPES syndrome includes a characteristic eyelid dysplasia, namely, small palpebral fissures (blepharophimosis), drooping eyelids (ptosis), and a tiny skin fold running inward and upward from the lower lid (epicanthus-inversus). In type-I BPES, the eyelid abnormalities are coinherited with ovarian failure; type-II BPES consists of the eyelid defects only.
There is evidence blepharophimosis, ptosis, and epicanthus-inversus syndrome, either with premature ovarian failure (BPES type-I) or without (BPES type-II), is caused by heterozygous mutation in the FOXL2 gene on cytogenetic location 3q22.3 and genomic coordinates 3:138,944,224-138,947,137. The screenshot of the FOXL2 gene 2,914 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FOXL2 in the 3q22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:138,434,616 | ESYT3 | Extended synaptotagmin-like protein 3 |
| 3:138,494,344 | CEP70 | Centrosomal protein, 70kD |
| 3:138,608,771 | FAIM | Fax apoptotic inhibitory molecule |
| 3:138,652,698 | PIK3CB | Phosphatidylinositol 3-kinase, catalytic, beta |
| 3:138,944,224 | FOXL2 | Forkhead transcription factor FOXL2 |
| 3:139,000,001 | STQTL10 | Stature quantitative trait locus 10 |
| 3:139,104,185 | BPESC1 | Blepharophimosis, ptosis, and epicanthus inversus candidate gene 1 |
| 3:139,343,994 | MRPS22 | Mitochondrial ribosomal protein S22 |
| 3:139,357,406 | COPB2 | Coatomer protein complex, subunit beta-2 |
| 3:139,452,884 | RBP2 | Retinol-binding protein-2, cellular |
