Løken-Senior syndrome is “a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease (“Løken-Senior Syndrome” 2003). Estimates show that most rare diseases have identified genetic origins (“Rare Disease” n.d., para 5). In addition, genetic research has suggested that a large number of genetic disorders that were not previously identified as related are actually highly related in the genotypical root cause of the disorders. Løken-Senior syndrome is a type of genetic disorder that affects more than one part of the body, and known as a ciliopathy (“Senior-Løken syndrome” n.d, para 2.).
A ciliopathy is a disorder of the cilia of certain cells. Cilia, created by the use of over 600 proteins, …show more content…
The CEP290 gene located on the long arm of chromosome 12 at position 21.32, known for making a protein that is present in many types of cells but not well understood. Studies suggest that it plays an important role in the development and activity of centrosomes and cilia. The IQCB1 gene located on the long arm of chromosome 3 at position 13.33, makes a protein used by the primary cilia of renal cells and photoreceptor cells. The NPHP1 gene is located on the long arm of chromosome 2 at position 13, provides the nephrocystin-1 protein, which plays a role in the function and maintenance of cilia. The NPHP4 gene is located on the short arm of chromosome 1 at position 36, is involved in renal tubular development and function. The SDCCAG8 gene is located on the long arm of chromosome 1 at position 43, encodes a protein believed to be involved in organizing the centrosome during interphase and mitosis. The WDR19 gene is located on the short arm of chromosome 4 at position 14, encodes a protein that is involved in the forming and maintaining of cilia. Løken-Senior syndrome is autosomal recessive, which means a child acquires both copies of mutated genes from his or her parents, and, although they each carry a copy of the mutated gene, the parents of this child typically show no signs or symptoms of the Løken-Senior syndrome. There are some cases involving a diagnosis of Løken-Senior syndrome without the identified mutations in one of the six known genes associated with the condition (“Løken-Senior Syndrome” 2003). In these cases, the genetic cause of the disorder is unknown. Once both phenotypes are expressed a diagnosis is made by sequence analysis of the entire coding region, or deletion/duplication analysis (“Renal dysplasia and retinal aplasia”
A ciliopathy is a disorder of the cilia of certain cells. Cilia, created by the use of over 600 proteins, …show more content…
The CEP290 gene located on the long arm of chromosome 12 at position 21.32, known for making a protein that is present in many types of cells but not well understood. Studies suggest that it plays an important role in the development and activity of centrosomes and cilia. The IQCB1 gene located on the long arm of chromosome 3 at position 13.33, makes a protein used by the primary cilia of renal cells and photoreceptor cells. The NPHP1 gene is located on the long arm of chromosome 2 at position 13, provides the nephrocystin-1 protein, which plays a role in the function and maintenance of cilia. The NPHP4 gene is located on the short arm of chromosome 1 at position 36, is involved in renal tubular development and function. The SDCCAG8 gene is located on the long arm of chromosome 1 at position 43, encodes a protein believed to be involved in organizing the centrosome during interphase and mitosis. The WDR19 gene is located on the short arm of chromosome 4 at position 14, encodes a protein that is involved in the forming and maintaining of cilia. Løken-Senior syndrome is autosomal recessive, which means a child acquires both copies of mutated genes from his or her parents, and, although they each carry a copy of the mutated gene, the parents of this child typically show no signs or symptoms of the Løken-Senior syndrome. There are some cases involving a diagnosis of Løken-Senior syndrome without the identified mutations in one of the six known genes associated with the condition (“Løken-Senior Syndrome” 2003). In these cases, the genetic cause of the disorder is unknown. Once both phenotypes are expressed a diagnosis is made by sequence analysis of the entire coding region, or deletion/duplication analysis (“Renal dysplasia and retinal aplasia”