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24.10.2014

Hearing loss kidney disease syndrome, social anxiety with depression - PDF Review

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Of every 1,000 babies born in the United States, an estimated 3 to 4 will have permanent congenital hearing loss (National Center for Hearing Assessment and Management, 2010). Though mutations in mitochondrial genes account for a small percentage of nonsyndromic hearing loss cases, they are important to note for their mode of inheritance and their association with an unusually high susceptibility to aminoglycoside ototoxicity (Chen, He, Fu, & Dong, 2011).
More than 60 genes implicated in nonsyndromic hearing loss have been identified (Van Camp & Smith, 2013).
Some types of hearing loss are caused by mutations or changes in the DNA that are too small to be detected by the previously mentioned methodologies.
In addition to patient diagnosis, genetic techniques are crucial for hearing loss research. Males with XLAS are severely affected and always develop kidney failure sometime in their lives, because they do not have a normal copy of the gene to buffer the effect of the mutant gene.
The Alport Syndrome Foundation is a 501(c)(3) non-profit organization dedicated to improving the lives of those affected by Alport Syndrome through education, empowerment, advocacy, and funding research.
Approximately 80% of genetic nonsyndromic hearing loss cases are inherited in an autosomal recessive fashion, while nearly 20% demonstrate an autosomal dominant mode of inheritance (Hilgert, Smith, & Van Camp, 2009). Genetic disorders can be caused by abnormalities in various regions; the method for identifying the genetic defect depends on the type of genetic syndrome or abnormality suspected and, thus, their known genomic defect. X-linked Alport Syndrome is caused by mutations in the COL4A5 gene, which resides on the X chromosome.
Unlike X-linked Alport Syndrome, the autosomal recessive type affects females just as severely as males.
Genetic forms of hearing loss can be syndromic, indicating other physical features are seen alongside the hearing loss, or nonsyndromic, meaning hearing loss is the only finding. GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei province of China.
Revisiting Down syndrome from the ENT perspective: Review of literature and recommendations [published ahead of print, May 21].
Mutations that affect the alpha-3, alpha-4, and alpha — 5 chains cause Alport Syndrome. Mutation in one copy of COL4A3 or COL4A4 can cause progressive kidney disease and hearing loss.


Waardenburg syndrome is the most common cause of autosomal dominant syndromic hearing loss, affecting 1 in 42,000 people (Read & Newton, 1997).
The most common gene causing nonsyndromic hearing loss is the GJB2 gene, also known as Connexin 26 or DFNB1 (Angeli, Lin, & Liu, 2012).
The most common survivable form of aberrant chromosome number is Down syndrome, which affects 1 in 700 births (Ramia, Musharrafieh, Khaddage, & Sabri, 2013). Gains and losses of DNA can be visualized by this technology, which gives a broad view of the entire genome; it is, therefore, not necessary to know the exact genetic anomaly when requesting this test. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. People with ADAS resemble people with XLAS, with some differences: kidney failure occurs relatively late in life (after age 40), changes in the eyes are very unusual and there is no difference in severity of disease in males and females. When a parent has Waardenburg syndrome, each child of that parent has a 50% chance of being affected by Waardenburg syndrome, assuming the other parent does not have the syndrome. The Connexin 26 gene accounts for about half of all autosomal recessive causes of nonsyndromic hearing loss (Kenneson, Van Naarden Braun, & Boyle, 2002). She is currently evaluating the Down syndrome critical region and the effect of speech language therapy on patients with Down syndrome. However, girls with X-linked Alport syndrome can also develop kidney failure and should not be considered as only carriers of XLAS. People with ADAS usually have a family history that is positive for progressive kidney disease and hearing loss. Identifying the cause of the hearing loss can benefit patients and their families by uncovering other health risks, estimating recurrence risks for future offspring, and indicating other family members who may be at risk. Individuals with Down syndrome, therefore, have a chromosome count of 47 instead of the usual 46. For example, a chip with segments of many different genes associated with hearing loss could be created to test for multiple deafness genes at one time. Audiologists should locate the geneticists in their area and maintain a close relationship with them for optimal care of patients with genetic forms of hearing loss. She has a strong interest in the genetics of hearing loss and hopes to pursue this facet of audiology.


She is also studying chromosome and epigenetic instability in the DNA methyltransferase 3B-deficient immunodeficiency, centromeric region instability, and facial anomalies (ICF) syndrome and its relationship to cancer-related chromatin instability. Mutation in one copy of COL4A3 or COL4A4 can also cause thin basement membrane nephropathy (TBMN), which differs from ADAS in that progressive kidney disease and hearing loss are very unusual. Typical features of Waardenburg syndrome include sensorineural hearing loss, a white forelock, pale blue or differently colored eyes, and widely spaced eyes. Mutations in the mitochondrial MT-RNR1 gene cause an increased susceptibility to aminoglycoside-induced ototoxicity, sometimes causing profound hearing loss after just one dose of aminoglycoside antibiotics (Van Camp & Smith, 2000). A list of microdeletion syndromes can be found on the Springer Protocols website (Schwartz & Graf, 2002). Information about genetic syndromes, testing, and geneticists in your area can be found at the National Institutes of Health Genetic Testing Registry and Genetests websites. People with TBMN usually have a family history that is negative for progressive kidney disease and hearing loss. A great deal of variable expressivity exists in Waardenburg syndrome, such that patients may have any combination of features, including normal hearing (de Sousa Andrade et al., 2012).
Waardenburg syndrome accounts for approximately 2% of cases of profound congenital hearing loss (de Sousa Andrade et al., 2012). The most severe type of Usher syndrome is characterized by congenital profound sensorineural hearing loss and progressive vision loss (Liu et al., 2013).
Most cases of Down syndrome are sporadic, but a small number of cases are inherited (Verma, Lall, & Dua Puri, 2012). Implications for health and disease in the genetic signature of the Ashkenazi Jewish population. Genetic testing of a mitochondrial mutation can identify other family members or future pregnancies at risk of early-onset substantial hearing loss, thereby allow for preventive measures to be taken.



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