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Nonsyndromic deafness can have different patterns of inheritance. Between 75% and 80% of cases are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Usually, each parent of an individual with autosomal recessive deafness is a carrier of one copy of the altered gene.
In X-linked hearing loss, the mother carries the recessive trait for hearing loss on the sex chromosome. She can pass on the trait to male and female children, but usually only male children are affected. There are some genetic syndromes, in which hearing loss is one of the known characteristics.
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. [2] It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad after he observed an association between pili torti and hearing loss. [3]
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.
Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [5]
Pendred syndrome has an autosomal recessive pattern of inheritance. Pendred syndrome is inherited in an autosomal recessive manner, meaning that one would need to inherit an abnormal gene from each parent to develop the condition. This also means that a sibling of a patient with Pendred syndrome has a 25% chance of also having the condition if ...
Hence, mutations in this gene cause autosomal recessive non-syndromic deafness. [7] [8] Mutations in STRC is the most common cause of moderate bilateral hearing loss, accounting for approximately 30% of cases. [9] The prevalence of hearing loss due to alterations in the STRC gene is estimated at 1 in 1600. [10]
DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures.