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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.
FerA and DysF are two intermediate domains that are unique to ferlins. There is less known about FerA and DysF domains, however, mutations of these domains in dysferlin can also lead to muscular dystrophy. [5] [6] As in other mammals, there are six ferlin genes in humans (Fer1L1-Fer1L6). Among them, Fer1L1-Fer1L3 have known disease relevance.
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 ...
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]
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Furthermore, there are multiple genes responsible for blue eyes, and several of these genes are not linked to masking, white coats or deafness, such as the dominant blue eye (DBE) gene carried by Ojos Azules. Another example is a mutation in the TYR gene causing point coloration, a form of partial albinism seen in Siamese cats and related breeds.
Gene therapy has allowed several children born with inherited deafness to hear. On Tuesday, the Children's Hospital of Philadelphia announced similar improvements in an 11-year-old boy treated there.