Blepharophimosis, ptosis and reverse epicanto syndrome ... (Blepharophimosis, ptosis, and epicanthus inversus syndrome -BPES-) - Gen FOXL2
Blepharophimosis syndrome, ptosis, and reverse epicanto (BPES) is a disease that primarily affects the development of the eyelids. People with this condition develop blepharophimosis, ptosis, reverse epicanto and telecanthus. Because of these abnormalities, the eyelids are not fully open and vision may be compromised. Other structures in the organ of vision and facial features may be slightly affected in this syndrome. Affected individuals may develop myopia or hyperopia in childhood, may have strabismus or amblyopia in one or both eyes and characteristic facial features and broad nasal bridge, low set auricles, or a short philtrum.
There are two types of BPES, distinguished by its signs and symptoms. Both types I and II, including malformations of the eyelids and other facial features. Type I is also associated with early primary ovarian failure in women, which causes their periods become less frequent and eventually stop before 40 years. Primary ovarian failure can cause subfertility or infertility.
Syndrome blepharophimosis ptosis and reverse epicanto, is due to mutations in the gene FOXL2, located on the long arm of chromosome 3 (3q23), encoding the protein synthesis FOXL2. This protein acts in various tissues, including the eyelids, ovaries and pituitary gland. The gene is responsible for protein synthesis palpebral musculature. Furthermore, before birth and in adulthood, protein regulates the growth and development of certain ovarian cells and the breakdown of specific molecules. This protein is also involved in the breakdown of fats, steroid hormones, and reactive oxygen molecules in the ovaries and apoptosis of ovarian cells.
There are more than 260 gene mutations involved in BPES FOXL2, occurring in two forms, type I and II. Although it is difficult to predict the type of BPES resulting from mutations in the gene FOXL2, mutations resulting in partial loss of function of the protein FOXL2 generally result BPES type II. These mutations probably alter the normal development of the palpebral muscles, developing malformations in them. Mutations which cause a complete loss of the protein, often result in the type I. These mutations also affect the muscles and the premature maturation of the ovarian cells and thus cause the premature death of eggs that is accompanied by infrequent menstrual cycles and premature menopause, which can lead to infertility.
5% of the mutations responsible for BPES occur in regulatory regions of the gene. Approximately 12% of mutations are deletions. Some people with BPES have large deletions of DNA to remove not only gene FOXL2 but also one or more genes next. Individuals with these large deletions develop BPES syndrome but can also develop other abnormalities such as microcephaly, mental retardation, heart defects and growth retardation, according to Gene condition.
Syndrome blepharophimosis ptosis and reverse epicanto (BPES) responds to an autosomal dominant inheritance, which means that a copy of the altered gene in each cell is sufficient to express the process. In some cases, an affected person inherits the mutation from an affected parent. Other cases are due to new mutations in the gene and occur in people with no family history.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome blepharophimosis ptosis and reverse epicanto (BPES), by complete PCR amplification of exons FOXL gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).