FGFR2 Is Involved in Beare-Stevenson Syndrome
The gene FGFR2 is implicated in Beare-Stevenson syndrome, a condition characterized by an abnormal growth pattern of the choana. The gene codes for a protein called fibroblast growth factor receptor 2. The FGFR2 protein plays an important role in cell signaling, and a faulty copy of the gene results in excessive signaling, compromising skin and skeletal development. Unfortunately, not all cases of BSCG are caused by a mutation in the FGFR2 gene.
The gene mutation responsible for the symptomatic phenotype of Beare-Stevenson syndrome can be detected by the International Virus Array Microarray (IVAMI), a test that can pinpoint the exact gene mutation that causes the disorder. It can also be used to identify individuals with the syndrome. The IVAMI is a highly sensitive test for the identification of mutations in the FGFR2 gene.
Symptoms of this condition include craniosynostosis and an underdeveloped upper jaw. Because the bones of the skull fuse prematurely, this disorder affects the growth of the brain. As a result, sufferers often experience delayed development and intellectual disability. Other symptoms of the disorder include wrinkled, thickened, and furrowed skin. There is no known cure for this disorder. Patients may experience delayed development and severe emotional and intellectual disabilities.
Affected individuals may have a prominent bulging eyelid. Skin on the hands and feet may be riddled. They may have small fingernails. In addition, their ears may be positioned lower than normal and rotated backward from their normal position. A person with this condition may also have corrugated skin on their genital area. Infants may also have a deformed stomach valve. If not diagnosed, medical care may be necessary to prevent further complications from forming.
A severe case of this congenital anomaly may not have the typical characteristics of the Beare-Stevenson syndrome. However, it does have the hallmarks of the condition. The child’s cranial endometrial duct has a clover-leaf appearance. The child’s hands and feet also have abnormalities. Dental anomalies may also be associated with the condition. This syndrome is often asymptomatic, but should be investigated by a geneticist.
Genetic tests for Beare-Stevenson syndrome have indicated that this disorder can be caused by a mutation in FGFR2. The mutacion 375 Tyr375Cys replaces the aminoacid tirosina with cisteina, promoting the prematurity of the craneol huesos and interferes with esqueletico development. While there are several causes of this disorder, genetic testing is the only way to confirm the diagnosis.