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Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition ( SLC26A4 , FOXI1 , and KCNJ10 ) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.
Source: GARD Last updated on 05-01-20
Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition.
Pendred syndrome can be caused either by having mutations in both copies of the SLC26A4 gene (more commonly), or by having one mutation in the SLC26A4 gene and one mutation in another gene.
Last updated on 05-01-20
Pendred syndrome is inherited in an autosomal recessive manner. The children of a person with Pendred syndrome will definitely be carriers of the condition. Carriers typically do not have any signs or symptoms. Children of a person with Pendred syndrome have a chance to have the condition if the other parent is a carrier.
People with specific questions about the genetics of Pendred syndrome and/or the probability of having a child with Pendred syndrome should speak with a genetics professional.
Last updated on 05-01-20
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