Beare-Stevenson cutis gyrate syndrome ..., (Beare-Stevenson cutis gyrate syndrome) - Gen FGF R2
Syndrome Beare Stevenson-cutis gyrata a genetic process is characterized by craniosynostosis and skin abnormalities. Premature fusion of the skull bones prevents it grows normally, affecting the morphology of the head and face. Many of the characteristic facial features of this syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which results in a skull - shaped "cloverleaf", googly eyes, ear anomalies and an underdeveloped upper jaw. Premature fusion of the skull bones also affects brain growth, causing developmental delay and intellectual disability. An abnormality of the skin known as "cutis gyrata" is also characteristic of this condition. The skin has a wrinkled appearance, especially in the face near the ears, on the palms of hands and soles of the feet. In addition, affected individuals may have acanthosis nigricans sometimes found in hands, feet and the genital region.
Other signs and symptoms may include additional choanal atresia, umbilical cord overgrowth and abnormal genitals and anus. Medical complications associated with this process are often fatal in childhood or early childhood.
Mutations in the FGFR2 gene, located on the long arm of chromosome 10 (10q26) are responsible for Beare-Stevenson gyrata of skin syndrome. This gene encodes the protein receptor fibroblast growth factor-2, which is one of four receptors fibroblast growth factor, which are proteins that are involved in important processes such as cell division, regulation of cell growth and maturation, the formation of blood vessels, wound healing and embryonic development.
La proteína FGFR2 se encuentra a través de la membrana celular, de modo que un extremo de la proteína permanece dentro de otras proyecciones de la superficie externa de la célula. Este posicionamiento permite que la proteína FGFR2 interactúe con factores de crecimiento específicos externos a célula y reciba señales que ayudan a la célula responder a su medio ambiente. to Este posicionamiento permite que la proteína FGFR2 interactúe con factores de crecimiento específicos externos a célula y reciba señales que ayudan a la célula responder a su medio ambiente. Cuando los factores de crecimiento se unen a la proteína FGFR2, el receptor desencadena una cascada de reacciones químicas dentro de la célula que hacen que la célula asuma la realización de ciertos cambios, como asumir funciones especializadas. to Cuando los factores de crecimiento se unen a la proteína FGFR2, el receptor desencadena una cascada de reacciones químicas dentro de la célula que hacen que la célula asuma la realización de ciertos cambios, como asumir funciones especializadas. La proteína FGFR2 juega un papel importante en el crecimiento óseo, particularmente durante el desarrollo embrionario. Hay varias versiones ligeramente diferentes (isoformas) de la proteína FGFR2. Los patrones específicos de estas isoformas se encuentran en los tejidos del organismo, y estos patrones pueden cambiar a lo largo del crecimiento y el desarrollo.
They have identified at least three mutations en el gen FGFR2 in people with síndrome de Beare-Stevenson cutis gyrata . The most common mutation replaces the amino acid tyrosine with the amino acid cysteine at position 375 in the protein (Tyr375Cys). Mutations in this gene sobreactivan signaling FGFR2 protein, which promotes premature fusion of the skull bones and interferes with skeletal development and skin. Some individuals with this syndrome have mutations identified in the FGFR2 gene, so that these cases would be of unknown cause.
This process is inherited in an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to express the process. All reported cases are due to new mutations in the gene, and have occurred in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Beare-Stevenson syndrome cutis gyrata, by complete PCR amplification of the exons of FGFR2 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).