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Diseases » Waardenburg syndrome » Inheritance

Inheritance and Genetics of Waardenburg syndrome

Genetics of Waardenburg syndrome:

Waardenburg syndrome is a genetic disorder that is largely inherited with an autosomal dominant pattern of inheritance. However, a small percentage of cases may arise from new mutations in families without a history of the syndrome. In addition, some cases are inherited in an autosomal recessive pattern.

Waardenburg syndrome: Genetics Information

Genetics of Waardenburg syndrome: The discovery of the human gene that causes Type I WS came about after scientists speculated that the gene that causes 'splotch mice' (mice with a splotchy coat coloring) might be the same gene that causes WS in humans. They located the human gene to chromosome 2 and found it was the same as mouse Pax3. Pax3 is one of a family of eight mouse Pax genes that are involved in regulating embryonic development at the level of transcription. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Waardenburg syndrome refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.


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