Idiopathic Congenital Nystagmus : A Disease Characterized By The Rapid, Involuntary Eye Movement

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

About 10% of those who encounter it experience it from a pattern through their family(Duane’s Syndrome). When the syndrome does transmit through family patterns there have been cases in which duane’s syndrome has skipped generations and different family members have encountered individual levels of asperity. These genes can be found as both recessive and dominant although dominant is the most common form of the syndrome. While experiencing this disorder you can experience 3 types of symptoms all varying in the eyes ability to move inward or outward, also including the eyes retraction, closing of the eye opening, and downshoot or upshoot when looking inward (Duane’s

For a female to acquire the trait, both parents must both parents must have the disorder, however, they can be carriers. White eye for drosophila is located in the X chromosome.

No, autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent doesn’t have any autosomal dominant disorders, then the child won’t have any either. As well, on the pedigree chart, there is no example of myotonic dystrophy skipping generations.

Crouzon syndrome is an autosomal dominant genetic disorder and is the most common craniosynostosis syndrome with an incidence of 16.5/1,000,000, representing 4.8% of craniosynostosis cases, and a prevalence of 1/60,000 in the U.S. Crouzon syndrome is caused by an activating mutation of the FGFR2 gene, an important factor in the conversion of the fibrous joint areas between sutures to bone. Specifically, the missense mutation occurs within exons IIIa and exon IIIc of the extracellular immunoglobulin domain, IgIII, in 95% of Crouzon patients. Generally, cysteine residues are replaced, preventing critical disulfide bond formation and ultimately cause spatiotemporal malformations. There are at least 32 documented unique mutations, 30-60% of which are sporadic, spontaneous mutations.

The cause of this condition not known. In some cases it may be caused by genes passed down through families.

No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have any.

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

Moreover, focal cortical dysplasia is a malformation of cortical development. Focal cortical dysplasia is a common cause of intractable epilepsy in children and is a frequent cause of epilepsy in adults. However, FCD includes a spectrum of disordered white and gray matter entities that range from mild cortical disruption to complete derangement of cortical lamination. Patients usually in childhood with refractory partial epilepsy, and subsequent magnetic resonance imaging (MRI) have reveals the area of disordered cortex. Treatment is centered on relieving the seizures and often involves surgical removal of the affected cortex. The defect is thought to arise from a migrational or apoptotic defect occurring early in development. In humans, the

The likely inheritance of Marfans syndrome is autosomal dominant and vertically inherited trait. In an autosomal dominant inheritance pattern, a person only needs one copy of the dominant allele from one parent to display the disorder. If they do not have Marfans syndrome, they are not a carrier for the disease. A person who has Marfans has a 50% chance of passing that disease to its offspring, as long as their partner does not have Marfans. If a person with Marfans were to mate with another person with Marfans, the chance of transmission is much higher, at least 75%.

LGMD2M is an autosomal recessive form of LGMD caused by mutations on the Fukutin protein. Onset of this disease typically occurs in childhood. The symptoms presented include weakness and wasting in the muscles of the hips, thighs, and shoulders. The cardiac and respiratory muscles may be involved. There have been few cases of this type of LGMD described, but the gene involved is also associated with a severe form of congenital muscular dystrophy (Institute of Genetic Medicine,

As stated before , Fragile X Syndrome is Inherited in a dominant X-linked sequence. The disease is caused by the pattern

As stated previously, the proteins, a1-chimaerin and a2-chimaerin, are important in the facilitation of neural growth. The a2-chimaerin protein regulates the movement between the different neurons, so that neural structures can develop properly. When a mutation takes place in the CHN1 gene, it causes the a2-chimaerin to not work properly. This mutation causes some of the nerves that are created by the CHN1 proteins to either be underdeveloped or missing altogether. Jeon-Min Hwang and associates found that the absence of the CHN1 caused the subsequent absence of cranial nerves IV and VI (18). Cranial nerve four, also known as the trochlear nerves, serves to lower the eye as it is adducted by the superior oblique muscles; in

Based upon observation of the F1 generation, we hypothesize that the inheritance of the white-eye (W) mutation is sex-linked and recessive wild type.

The second type is DM2. Interesting enough the gene CNBP is the only gene in which a mutation within it is known to cause myotonic dystrophy in its second type.“It’s more than 99% accurate with the combination of routine PCR, Southern blot analysis, and the PCR repeat-primed assay.”DM2 comes from a defect in chromosome three.