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Deafness in animals can occur as either unilateral (one ear affected) or bilateral (both ears affected). This occurrence of either type of deafness seems to be relatively the same in both mixed-breed animals and pure-breed animals. [5] Research has found a significant association between deafness in dogs and the pigment genes piebald and merle ...
Mutations in the gene encoding otoferlin are a cause of a neurosensory nonsyndromic recessive deafness, DFNB9.The diagnosis is identified by molecular genetic testing.. In October 2023 two small clinical trials for a gene therapy restoring the defective Otoferlin via an adeno-associated virus (AAVs) have been announced.
Ferlins play roles in vesicle fusion and membrane trafficking. Different ferlins are found in various organs and they play specific roles. [16] Fer-1 is a member of ferlin protein family, and a fertilization factor involved in fusion of vesicles called membraneous organelles with the sperm plasma membrane during spermatogenesis in C. elegans.
Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness). [7] One fairly common mutation is the deletion of one guanine from a string of six, resulting in a frameshift and termination of the protein at amino acid number 13. Having ...
In some breeds of cats congenital sensorineural deafness is very common, with most white cats (but not albinos) being affected, particularly if they also have blue eyes. [1] The gene responsible for this defect is the KIT gene, and the disease is studied in the hope that it may shed light on the causes of hereditary deafness in humans. [8]
A completely deaf, solid white, blue-eyed cat A deaf white cat with yellow eyes. This engraving depicts two cats on a wall with a dog barking below them. The spotted cat hisses at the dog while the deaf white cat dozes, unaware of the barking. Congenital sensorineural deafness occurs commonly in domestic cats with a white coat.
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The KIT gene determines whether or not there will be any white in the coat, except when a solid white coat is caused by albinism. White spotting and epistatic white (also known as dominant white) were long thought to be two separate genes (called S and W respectively), [22] but in fact they are both on the KIT gene.