Craniofrontonasal Dysplasia
Craniofrontonasal Dysplasia (CFND) is a rare, inherited x-linked disorder that results in deformities and abnormalities in the craniofacial area of those who are diagnosed with the disease. It is unusually more prevalent in females than in males and the symptoms tend to be more severe in females as well. Some of the many symptoms associated with this disease include widely spaced eyes, an unusually wide mouth, a cleft that is located on the tip of the nose, and other portions of the face may appear to be underdeveloped. Also, patients tend to have webbed feet and hands. While this disease can be detected in prenatal exams, the only treatment to resolve it appears to be mainly constructive in that surgery can be used to address some of the
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To start, as described previously this disease is an x-linked disorder which means there is more than likely going to be a gene that causes the disorder. EFNB1 is the gene that encodes the transmembrane protein, ephrin-B1 and research has traced CFND to the activities of EFNB1. As a review from this week’s textbook reading, the ephrin family signaling proteins acts as a ligand and binds to and activates the Eph family of receptor tyrosine kinases (RTKs). The Eph family plays an important role in cell migration and when activated by ephrin, it is known to help motor neurons get to their target. However, with this disease a mechanism called cellular interference occurs between the Eph-epherin complex resulting in the manifestation of the disease as we know it. Ephrin-B1 encoded by EFNB1 participates in bi-directional cell signaling. It acts as both a ligand and receptor promoting the forward signaling and reverse signaling in the eph bearing and ephrin bearing cell respectively. In patients that have the heterozygous form of the disease, it is expected that two daughter cells that express the EFNB1 gene will produce a mosaic pattern causing two cell populations to encode ephrin-B1. Wieland et al. contributed that the cellular interference of the mosaic reflections of two cellular populations results in the developmental morphogenesis deformities and other symptoms that present with this
To start, as described previously this disease is an x-linked disorder which means there is more than likely going to be a gene that causes the disorder. EFNB1 is the gene that encodes the transmembrane protein, ephrin-B1 and research has traced CFND to the activities of EFNB1. As a review from this week’s textbook reading, the ephrin family signaling proteins acts as a ligand and binds to and activates the Eph family of receptor tyrosine kinases (RTKs). The Eph family plays an important role in cell migration and when activated by ephrin, it is known to help motor neurons get to their target. However, with this disease a mechanism called cellular interference occurs between the Eph-epherin complex resulting in the manifestation of the disease as we know it. Ephrin-B1 encoded by EFNB1 participates in bi-directional cell signaling. It acts as both a ligand and receptor promoting the forward signaling and reverse signaling in the eph bearing and ephrin bearing cell respectively. In patients that have the heterozygous form of the disease, it is expected that two daughter cells that express the EFNB1 gene will produce a mosaic pattern causing two cell populations to encode ephrin-B1. Wieland et al. contributed that the cellular interference of the mosaic reflections of two cellular populations results in the developmental morphogenesis deformities and other symptoms that present with this