Pendred syndrome

How is Pendred syndrome inherited?

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

Will a person with Pendred syndrome have affected children?

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

Name: National Association of the Deaf 8630 Fenton Street Suite 820
Silver Spring, MD, 20910 , United States
Phone: +1-301-587-1788 TTY: +1-301-587-1789 Fax : +1-301-587-1791 Email: NADinfo@nad.org Url: https://www.nad.org/
Name: American Society for Deaf Children (ASDC) PO Box 23
Woodbine, MD, 21797, United States
Toll Free: 1-800-942-2732 Email: info@deafchildren.org Url: http://deafchildren.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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