Apert syndrome ... (Apert syndrome) - Gen FGFR2
Apert syndrome is a disorder of genetic origin characterized by premature fusion of the skull bones (craneosonostosis), preventing normal growth of the skull, affecting the shape of the head and face and brain development, can also affect intellectual development. In addition, some fingers and toes are UNIDOSS (syndactyly). They described other changes associated with this syndrome as skeletal involvement in the shoulders, humerus, elbows, hips, knees, chest, spine and central nervous system, among others.
Most cases of Apert syndrome are of due to mutations in the gene encoding the receptor 2 fibroblast growth factor, FGFR2, located on the long arm of chromosome 10 (10q26). Variety of craniosynostosis (including Apert syndrome, Pfeiffer, Jackson-Weiss, etc.) are caused by mutations in three of the four genes encoding growth factor receptors fibroblast (FGFR). FGFR receptors are tyrosine kinase fibroblast growth factors involved in intercellular signaling pathways by interacting with its ligands, the fibroblast growth factors. They are, therefore, signal transduction molecules that extend through the cell membrane plays a central role in signaling events that regulate the fusion of the cranial sutures.
They have identified at least 7 mutations in the FGFR2 gene in people with Apert syndrome. These mutations change the amino acids in FGFR2 protein, disrupting the three dimensional structure of the protein. A particular mutation replaces the amino acid serine in the amino acid tryptophan position 252 of the protein (Ser252Trp). The other mutation replaces the amino acid proline the amino acid arginine at position 253 (Pro253Arg). Thus, these mutations result in a gain of function of FGFR2 causing a stronger receptor signaling promotes premature fusion of the skull bones, hands and feet. In addition, depending on the causative mutation of Apert syndrome there are certain well - established phenotypic nuances. For example, the S252W mutation is associated with a higher incidence of cleft palate, whereas P253R mutation is associated with syndactyly stronger and more stunted.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Apert syndrome, 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).